View unique variants - Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

About this overview [Show]

The variants below are all in the CDH1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the CDH1 full legend here.

147 entries
entries per page

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Patients

Controls

DB-ID

Type

Location

Template

Technique

Tissue

Variant remarks

Reference


01	c.-347_-348insA (Reported 6 times)	c.-348_-347insA	-	-	TfiI, HinfI	-	-	-	CDH1_00171	Substitution	5' UTR	DNA	PCR	blood	-	-
01	c.-161C>A (Reported 2 times)	-	-	-	-	-	-	-	CDH1_00170	Substitution	5' UTR	DNA	PCR	blood	-	-
01	c.-160C>A (Reported 12 times)	rs16260	-	-	-	-	-	-	CDH1_00027	Substitution	5' UTR	DNA	PCR	blood	-	-
01	c.-73C>A	-	-	-	-	-	-	-	CDH1_00155	Substitution	Exon	DNA	PCR, SEQ	blood	-	-
01	c.-71C>G	-	-	-	-	-	-	-	CDH1_00164	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-
01	c.?	g.1881_1888del	-	-	-	-	1	-	CDH1_00173	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
01	c.44dup	45insT	-	p.Gln16AlafsX18	-	-	-	-	CDH1_00158	Duplication	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
01	c.48+5C>G	IVS1+5C>G	-	-	-	-	1/28 family members	0/100	CDH1_00078	Substitution	Intron	DNA	PCR, SEQ, Southern, SSCA	blood	-	-
01	c.49_50insAG	Codon 17 Frameshift 50insAG	-	p.Val17GlufsX40	-	-	-	-	CDH1_00103	Insertion	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-
02	c.49-2A>C	-	-	-	-	-	-	-	CDH1_00095	Substitution	Intron	DNA	RT-PCR, SEQ	blood	-	-
02	c.49-2A>G	-	-	-	-	-	-	-	CDH1_00031	Substitution	Intron	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
02	c.49_163del	out-of-frame deletions of exon 2	-	p.Val17X	-	-	1	-	CDH1_00157	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
02	c.54del	53delC	-	p.Ser19LeufsX37	-	-	-	-	CDH1_00167	Deletion	Exon	DNA	PCR, SEQ, SSCA	blood	-	-
02	c.54delC	-	-	p.Ser19LeufsX37	-	-	-	-	CDH1_00032	Deletion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
02	c.59G>A (Reported 2 times)	-	-	p.Trp20X	-	-	1	-	CDH1_00033	Substitution	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
02	c. 67C>T	-	-	p.Gln23X	-	-	1	-	CDH1_00003	Substitution	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
02	c.70G>T (Reported 2 times)	-	-	p.Glu24X	-	-	-	-	CDH1_00034	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
02	c.88C>A (Reported 2 times)	-	-	p.Pro30Thr	-	-	-	-	CDH1_00102	Substitution	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-
02	c.163+21T>C	c.163+21C>T	-	-	-	-	-	-	CDH1_00104	Substitution	Intron	DNA	PCR, SEQ, SSCA	tumor sample	-	-
02	c.163+27297A>G	rs1559366	-	-	-	-	22/56	115/361	CDH1_00089	Substitution	Intron	DNA	PCR, SEQ	blood	-	-
03	c.164_387del	-	-	p.Val55GlyfsX38	-	-	1	-	CDH1_00004	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
03	c.178T>C	-	-	p.Cys60Arg	-	-	-	-	CDH1_00153	Substitution	Exon	DNA	PCR, SEQ	blood	-	-
03	c.185G>T	-	-	p.Gly62Val	-	-	-	-	CDH1_00035	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
03	c.187C>T	-	-	p.Arg63X	-	-	-	-	CDH1_00036	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
03	c.190C>T (Reported 2 times)	-	-	p.Gln64X	-	-	-	-	CDH1_00037	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
03	c.214G>A	-	-	p.Asp72Asn	-	NA	-	-	CDH1_00121	Substitution	Exon	DNA	PCR	unknown	-	-
03	c.283C>T (Reported 3 times)	-	-	p.Gln95X	-	-	-	-	CDH1_00024	Substitution	Exon	DNA	IHC, PCR, SEQ	blood,tumor	-	-
03	c.331del	c.328delT	-	p.Ser111ProfsX6	-	NA	-	-	CDH1_00152	Deletion	Exon	DNA	PCR	unknown	-	-
03	c.345G>A	-	-	p.Thr115Thr	-	-	-	-	CDH1_00067	Substitution	Exon	DNA	mPCR, PCR, SEQ, SSCA	blood	-	-
03	c.353C>G (Reported 3 times)	-	-	p.Thr118Arg	-	-	-	-	CDH1_00058	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-
03	c. 367C>T	-	-	p.His123Tyr	-	-	1	-	CDH1_00005	Substitution	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
03	c.371G>A	-	-	p.Arg124His	-	NA	-	-	CDH1_00123	Substitution	Exon	DNA	PCR	unknown	-	-
03	c.377del	372-377del1	-	p.Pro126ArgfsX89	-	-	-	-	CDH1_00038	Deletion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
03	c.377delC	c.372delC	-	p.Pro126ArgfsX89	-	-	1/108	-	CDH1_00017	Deletion	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-
03	c.377dup	Codon 127 Frameshift 372insC	-	p.Pro127AlafsX41	-	-	-	-	CDH1_00105	Duplication	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-
03	c.382dup	c.378_379insC	-	p.His128ProfsX40	-	-	1/108	-	CDH1_00018	Duplication	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-
04	c.388-3064G>T	rs10431923	-	-	-	-	17/56	98/361	CDH1_00090	Substitution	Intron	DNA	PCR, SEQ	blood	-	-
04	c.394G>A	-	-	p.Val132Ile	-	NA	-	-	CDH1_00124	Substitution	Exon	DNA	PCR	unknown	-	-
04	c.471_531+2del	c.469_531del	-	p.Val157_Gln177del	-	-	1	-	CDH1_00006	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
04	c.515C>G	-	-	p.Pro172Arg	-	-	-	0/212	CDH1_00117	Substitution	Exon	DNA	SEQ	DNA sample	the sole mutation for which a disruptive effect on the protein conformation was predicted.	-
04	c.531+10G>C (Reported 3 times)	-	-	-	-	-	3/43	7/30	CDH1_00012	Substitution	Intron	DNA	PCR, SEQ, SSCA	tumor	-	-
05	c.586G>T (Reported 2 times)	-	-	p.Gly196X	-	-	-	-	CDH1_00039	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
05	c.602C>G	-	-	p.Pro201Arg	-	NA	-	-	CDH1_00125	Substitution	Exon	DNA	PCR	unknown	-	-
05	c.612_620del	-	-	p.Phe205_Ile207del	-	-	1	-	CDH1_00007	Deletion	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
05	c.641T>C (Reported 2 times)	-	-	p.Leu214Pro	-	-	-	-	CDH1_00059	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-
05	c.687+92T>A	-	-	-	-	-	-	-	CDH1_00074	Substitution	Intron	DNA	PCR, SEQ, SSCA	blood	-	-
05	c.687+144G>A	rs7188750	-	-	-	-	37/56	255/361	CDH1_00091	Substitution	Intron	DNA	SEQ	blood	-	-
06	c.715G>A (Reported 2 times)	-	-	p.Gly239Arg	-	-	-	-	CDH1_00096	Substitution	Exon	DNA	RT-PCR, SEQ	blood	-	-
06	c.715G>C	-	-	p.Gly239Arg	-	-	-	-	CDH1_00060	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-
06	c.724G>A	-	-	p.Val242Ile	-	NA	-	-	CDH1_00126	Substitution	Exon	DNA	PCR	unknown	-	-
06	c.731A>G (Reported 3 times)	-	-	p.Asp244Gly	-	-	-	-	CDH1_00040	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
06	c.832G>A	-	-	p.Gly278Arg	-	-	-	-	CDH1_00041	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
07	c.833-2A>G	-	-	-	-	-	-	-	CDH1_00002	Substitution	Intron	DNA	RT-PCR, SEQ	blood	we have identified a novel CDH1 mutation in a large hereditary diffuse gastric cancer kindred and identified its pathogenic mechanism.	-
07	c.846G>A	-	-	p.Met282Ile	-	-	1/108	-	CDH1_00019	Substitution	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	One missense mutation in exon 7 occurred in the region encoding 1 of the 5 extracellular domains containing Ca2+ binding motifs.	-
07	c.862_867delinsA	862	-	p.Asp288ArgfsX3	-	-	-	-	CDH1_00162	Insertion/Deletion	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-
07	c.866_867del	-	-	p.Ala289GlyfsX3	-	-	1/108	-	CDH1_00169	Deletion	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-
07	c.866_867delCG	-	-	p.Ala289GlyfsX3	-	-	1/108	-	CDH1_00022	Deletion	Exon	DNA	DHPLC, PCR, SEQ, SSCA	blood	-	-
07	c.892G>A (Reported 3 times)	-	-	p.Ala298Thr	-	-	-	-	CDH1_00061	Substitution	Exon	DNA	PCR, SEQ, Western	unknow	-	-
07	c.918C>T	-	-	p.Ser306Ser	-	-	1/34 family members	not done	CDH1_00080	Substitution	Exon	DNA	PCR, SEQ, Southern, SSCA	blood	-	-
07	c.1003C>T (Reported 2 times)	-	-	p.Arg335X	-	-	6/ a family	-	CDH1_00028	Substitution	Exon	DNA	DHPLC, PCR	blood	-	-
07	c.1008G>T (Reported 2 times)	-	-	p.Glu336Asp	-	-	-	-	CDH1_00042	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
08	c.1018A>G (Reported 3 times)	-	-	p.Thr340Ala	-	-	-	-	CDH1_00043	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
08	c.1019C>T	-	-	p.Thr340Met	-	NA	-	-	CDH1_00127	Substitution	Exon	DNA	PCR	unknown	-	-
08	c.1029G>C	-	-	p.Leu343Leu	-	-	1/34 family members	not done	CDH1_00081	Substitution	Exon	DNA	PCR, SEQ, Southern, SSCA	blood	-	-
08	c.1107delC	-	-	p.Asn369LysfsX24	-	-	-	-	CDH1_00097	Deletion	Exon	DNA	RT-PCR, SEQ	blood	-	-
08	c.1118C>T (Reported 3 times)	-	-	p.Pro373Leu	-	-	3/ a family	-	CDH1_00026	Substitution	Exon	DNA	PCR, Western	Gastric tumour tissue	-	-
08	c.1135_1137+5delACGGTAATinsTTAGA	-	-	p.?	-	-	-	-	CDH1_00057	Insertion/Deletion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	This mutation causes a truncated protein with removal of the highly conserved cytoplasmic region.	-
08	c.1137G>A	-	-	p.Tyr380Tyr	-	-	-	-	CDH1_00098	Substitution	Exon	DNA	RT-PCR, SEQ	blood	-	-
08	c.1137+1G>A (Reported 2 times)	-	-	-	-	-	-	-	CDH1_00044	Substitution	Intron	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
09	c.1143G>C	-	-	p.Lys381Asn	-	NA	-	-	CDH1_00128	Substitution	Exon	DNA	PCR	unknown	-	-
09	c.1174G>A	-	-	p.Val392Ile	-	NA	-	-	CDH1_00129	Substitution	Exon	DNA	PCR	unknown	-	-
09	c.1178T>A	-	-	p.Ile393Asn	-	NA	-	-	CDH1_00130	Substitution	Exon	DNA	PCR	unknown	-	-
09	c.1202C>A	-	-	p.Ala401Asp	-	NA	-	-	CDH1_00131	Substitution	Exon	DNA	PCR	unknown	-	-
09	c.1223C>T	-	-	p.Ala408Val	-	NA	-	-	CDH1_00132	Substitution	Exon	DNA	PCR	unknown	-	-
09	c.1243A>C	-	-	p.Ile415Leu	-	-	-	0/50	CDH1_00119	Substitution	Exon	DNA	SEQ	DNA sample	-	-
09	c.1304_1305delinsA	1302_1303insA, 1306_1307delTT	-	p.Ile435AspfsX2	-	-	8/a family	-	CDH1_00071	Insertion/Deletion	Exon	DNA	PCR, SEQ	peripheral blood (PB)	-	-
10	c.1387G>C	-	-	p.Glu463Gln	-	-	1	-	CDH1_00156	Substitution	Exon	DNA	RT-PCR, SEQ, SSCA	tumor	-	-
10	c.1397_1398del	c.1391_1392delTC	-	p.Leu466HisfsX16	-	-	-	-	CDH1_00099	Deletion	Exon	DNA	RT-PCR, SEQ	blood	-	-
10	c.1409C>T	-	-	p.Thr470Ile	-	-	-	-	CDH1_00070	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
10	c.1417G>A	-	-	p.Val473Ile	-	NA	-	-	CDH1_00133	Substitution	Exon	DNA	PCR	unknown	-	-
10	c.1433T>C	-	-	p.Leu478Pro	-	NA	-	-	CDH1_00134	Substitution	Exon	DNA	PCR	unknown	-	-
10	c.1460T>C (Reported 3 times)	-	-	p.Val487Ala	-	-	-	-	CDH1_00045	Substitution	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
10	c.1472dup	c.1471_1472insA	-	p.Arg492GlufsX45	-	-	-	-	CDH1_00161	Duplication	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
10	c.1488_1494del (Reported 2 times)	1487del7	-	p.Glu497LeufsX23	-	-	-	-	CDH1_00160	Deletion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
10	c.1494C>A	-	-	p.Asp498Glu	-	NA	-	-	CDH1_00135	Substitution	Exon	DNA	PCR	unknown	-	-
10	c.1507C>T	-	-	p.Gln503X	-	-	2/a family	-	CDH1_00082	Substitution	Exon	DNA	DHPLC, IHC, PCR, SEQ	blood	-	-
10	c.1516A>G	-	-	p.Thr506Ala	-	G=0.003/1	-	-	CDH1_00136	Substitution	Exon	DNA	PCR	unknown	-	-
10	c.1519_1525del	1519del7bp	-	p.Ser507LeufsX13	-	-	-	-	CDH1_00163	Deletion	Exon	DNA	PCR, SEQ, SSCA	tumor sample	-	-
10	c.1565+1G>T (Reported 2 times)	-	-	-	-	-	-	-	CDH1_00048	Substitution	Intron	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
11	c.1582delG	-	-	p.Asp528ThrfsX29	-	-	-	-	CDH1_00025	Deletion	Exon	DNA	IHC, PCR, SEQ	blood,tumor	-	-
11	c.1588dupC (Reported 2 times)	-	-	p.Ala530GlyfsX7	-	-	-	-	CDH1_00049	Duplication	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
11	c.1603A>G	-	-	p.Ile535Val	-	NA	-	-	CDH1_00137	Substitution	Exon	DNA	PCR	unknown	-	-
11	c.1610delC	-	-	p.Pro537ArgfsX20	-	-	3/a family	-	CDH1_00111	Deletion	Exon	DNA	IHC, SEQ	peripheral blood	-	-
11	c.1628C>T	-	-	p.Ser543Phe	-	NA	-	-	CDH1_00138	Substitution	Exon	DNA	PCR	unknown	-	-
11	c.1680G>C	-	-	p.Thr560Thr	-	-	-	-	CDH1_00068	Substitution	Exon	DNA	mPCR, PCR, SEQ, SSCA	blood	-	-
11	c.1710delT (Reported 2 times)	-	-	p.Asn570LysfsX14	-	-	-	-	CDH1_00050	Deletion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
11	c.1710_1711insG	c.1710_1711insG	-	p.Ser572PhefsX16	-	-	-	-	CDH1_00051	Insertion	Exon	DNA	PCR, SEQ, SSCA	lymphocytes	-	-
11	c.1711+1G>C	-	-	-	-	-	-	-	CDH1_00106	Insertion	Intron	DNA	PCR, SEQ, SSCA	tumor sample	-	-
12	c.1720G>T	-	-	p.Val574Phe	-	T=0.003/2	-	-	CDH1_00139	Substitution	Exon	DNA	PCR	unknown	-	-
12	c.1774G>A (Reported 3 times)	1774G>A Ala592Thr	-	p.Ala592Thr	-	-	-	-	CDH1_00075	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-

1 - 100
[<-] 1 2 [->]

Legend: [ CDH1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Patients: Patients Controls: Controls CDH1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Type: Type of variant at DNA level. Location: Variant location at DNA level. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Tissue: Tissue type the variant was detected in. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database.

Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

cadherin 1, type 1, E-cadherin (epithelial) (CDH1)