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

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The variants below are all in the CHEK2 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than CHEK2, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
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 CHEK2 full legend here.

2 public entries
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Path.

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Patients

Controls

DB-ID

Type

Location

Template

Technique

Tissue

Variant remarks

Reference

Disease

Reference

Remarks

# Reported

Mut. origin

Gender

Occurrence

De novo origin

Geographic origin

Ethnic origin

Population


?/?	13	c.1427C>A + 17 others	C1427A	-	p.Thr476Lys	-	-	0/698	0/423	CHEK2_00038	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-	Prostate Cancer	Dong et al., 2003, Peikuan Cong	our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage	1	-	Male	-	-	USA	-	-
+?/?	13	c.1427C>A + c.190G>A, c.349A>G, c.470T>C, c.541C>T, c.715G>A, c.961G>A, c.967A>C, c.1100 delC	c.1427C>A	-	p.Thr476Lys	-	-	-	-	CHEK2_00038	Substitution	Exon	DNA	DHPLC, PCR, SEQ, Western	primary prostate tumor tissue	Taken together, these results provide evidence that both germline and somatic CHEK2 mutations identified in prostate cancer may contribute to the development of prostate cancer through the reduction of CHEK2 activation in response to DNA damage and/or oncogenic stress.	-	Prostate Cancer	Wu et al., 2006, Peikuan Cong	-	1	-	-	Sporadic	-	America	Rochester, Minnesota	-

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Legend: [ CHEK2 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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 CHEK2 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. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. Remarks: Remarks # Reported: Number of times this case has been reported Mut. origin: Origin of mutation Gender: Patient gender Occurrence: Occurrence De novo origin: If de novo, origin of mutation Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Population: Patient population

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

checkpoint kinase 2 (CHEK2)