Variant #0000382842 (NC_000007.13:g.2580613C>T, BRAT1(NM_152743.3):c.1395G>A)
Individual ID |
00168942 |
Chromosome |
7 |
Allele |
Maternal (confirmed) |
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.2580613C>T |
DNA change (hg38) |
g.2540979C>T |
Published as |
- |
ISCN |
- |
DB-ID |
BRAT1_000016 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs201855243 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Enza Maria Valente |
Database submission license |
No license selected |
Created by |
Enza Maria Valente |

Variant on transcripts
Screenings
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