Variant #0000084523 (NC_000017.10:g.41215935T>C, NM_007294.3:c.5108A>G (BRCA1))
Individual ID |
00054632 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41215935T>C |
DNA change (hg38) |
g.43063918T>C |
Published as |
- |
ISCN |
- |
DB-ID |
BRCA1_003007 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Soo Hwang Teo |
Database submission license |
No license selected |
Created by |
Soo Hwang Teo |
Date created |
2015-11-03 05:08:32 +01:00 (CET) |
Date last edited |
2016-08-05 14:13:49 +02:00 (CEST) |

Variant on transcripts
Screenings
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