Variant #0000079148 (NC_000022.10:g.29130652G>A, NM_007194.3:c.58C>T (CHEK2))

Individual ID 00050251
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.29130652G>A
DNA change (hg38) g.28734664G>A
Published as -
ISCN -
DB-ID CHEK2_000005 See all 6 reported entries
Variant remarks association variant/phenotype uncertain
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00015 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-27 13:26:52 +02:00 (CEST)
Date last edited 2025-06-10 00:02:12 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_007194.3 +/. 2 c.58C>T r.(?) p.(Gln20*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050196 DNA SEQ;SEQ-NG-I - - CHEK2 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.