Variant #0000191032 (NC_000017.10:g.41276045dup, BRCA1(NM_007294.3):c.69dup)
Chromosome |
17 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41276045dup |
DNA change (hg38) |
g.43124028dup |
Published as |
- |
ISCN |
- |
DB-ID |
BRCA1_004566 See all 2 reported entries |
Variant remarks |
Variant allele predicted to encode truncated non-functional protein |
Reference |
ENIGMA classification criteria |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
ENIGMA consortium |
Database submission license |
No license selected |
Created by |
ENIGMA consortium |
Date created |
2016-10-18 12:00:00 +02:00 (CEST) |
Date last edited |
2020-02-20 16:15:54 +01:00 (CET) |

Variant on transcripts
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