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

Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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The variants below are all in the CDH1 database, matching your query. 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.

27 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


00	c.-160C>A (Reported 2 times)	-	-	-	-	-	17/32 family menbers	63/114	CDH1_00027	Substitution	5' UTR	DNA	PCR, SEQ, SSCA	blood	-	-
01	c.-347_-348insA (Reported 2 times)	c.-347_-346insA	-	-	Ban II	-	137/290	141/335	CDH1_00172	Insertion	5' UTR	DNA	PCR, SEQ	blood	We found that the GA-allele did not increase the risk of CRC compared with the G-allele	-
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.48+5C>G	IVS1+5C>G	-	-	-	-	1/28 family members	0/100	CDH1_00078	Substitution	Intron	DNA	PCR, SEQ, Southern, SSCA	blood	-	-
02	c.163+27297A>G	rs1559366	-	-	-	-	22/56	115/361	CDH1_00089	Substitution	Intron	DNA	PCR, SEQ	blood	-	-
03	c.345G>A	-	-	p.Thr115Thr	-	-	-	-	CDH1_00067	Substitution	Exon	DNA	mPCR, PCR, SEQ, SSCA	blood	-	-
04	c.388-3064G>T	rs10431923	-	-	-	-	17/56	98/361	CDH1_00090	Substitution	Intron	DNA	PCR, SEQ	blood	-	-
04	c.531+10G>C (Reported 3 times)	-	-	-	-	-	3/43	7/30	CDH1_00012	Substitution	Intron	DNA	PCR, SEQ, SSCA	tumor	-	-
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>C	-	-	p.Gly239Arg	-	-	-	-	CDH1_00060	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	-	-
08	c.1029G>C	-	-	p.Leu343Leu	-	-	1/34 family members	not done	CDH1_00081	Substitution	Exon	DNA	PCR, SEQ, Southern, SSCA	blood	-	-
08	c.1137G>A	-	-	p.Tyr380Tyr	-	-	-	-	CDH1_00098	Substitution	Exon	DNA	RT-PCR, SEQ	blood	-	-
08	c.1137+1G>A	-	-	-	-	-	-	-	CDH1_00044	Substitution	Intron	DNA	PCR, SEQ, SSCA	blood	-	-
11	c.1680G>C	-	-	p.Thr560Thr	-	-	-	-	CDH1_00068	Substitution	Exon	DNA	mPCR, PCR, SEQ, SSCA	blood	-	-
12	c.1896C>T (Reported 2 times)	-	-	p.His632His	-	-	1/86	-	CDH1_00012	Substitution	Exon	DNA	PCR, SEQ	blood	-	-
13	c.1937-13T>C (Reported 4 times)	-	-	-	-	-	18/43	-	CDH1_00076	Substitution	Intron	DNA	PCR, SEQ, SSCA	tumor	-	-
13	c.2076T>C (Reported 6 times)	-	-	p.Ala692Ala	-	-	56/86	-	CDH1_00013	Substitution	Exon	DNA	PCR, SEQ	blood	-	-
14	c.2253C>T (Reported 4 times)	-	-	p.Asn751Asn	-	-	1/86	-	CDH1_00014	Substitution	Exon	DNA	PCR, SEQ	blood	-	-
14	c.2292C>T	-	-	p.Asp764Asp	-	-	1/34 family members	not done	CDH1_00085	Substitution	Exon	DNA	PCR, SEQ, Southern, SSCA	blood	-	-
15	c.2439+52G>A	rs33965115	-	-	-	-	52/56	311/361	CDH1_00092	Substitution	Intron	DNA	PCR, SEQ	blood	-	-
16	c.2440-6C>G	-	-	-	-	-	-	-	CDH1_00101	Substitution	Intron	DNA	RT-PCR, SEQ	blood	-	-
16	c.2494G>A	-	-	p.Val832Met	-	-	-	-	CDH1_00066	Substitution	Exon	DNA	BESS, mPCR, RT-PCR, SEQ, SSCA	gastric	-	-
16	c.2634C>T (Reported 2 times)	-	-	p.Gly878Gly	-	-	1/86	-	CDH1_00015	Substitution	Exon	DNA	PCR, SEQ	blood	-	-
16	c.2637C>T	-	-	p.Gly879Gly	-	-	-	-	CDH1_00069	Substitution	Exon	DNA	mPCR, PCR, SEQ, SSCA	blood	-	-

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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)

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