Variant #0000682721 (NC_000022.10:g.29091114C>T, NC_000022.10(NM_007194.3):c.1375+1G>A (CHEK2))
Individual ID |
00307257 |
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.29091114C>T |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
CHEK2_000242 |
Variant remarks |
- |
Reference |
PubMed: Mendonca 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
- |
Frequency |
0.039 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Vanessa Mendonça |
Database submission license |
No license selected |
Created by |
Vanessa Mendonça |
Date created |
2020-08-07 01:07:58 +02:00 (CEST) |
Date last edited |
2021-12-30 13:49:04 +01:00 (CET) |

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