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 International |
| 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) |

Variant on transcripts
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