rs80357954

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80357954(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094443

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357954
dbSNP (classic)	rs80357954
ClinGen	rs80357954
ebi	rs80357954
HLI	rs80357954
Exac	rs80357954
Gnomad	rs80357954
Varsome	rs80357954
LitVar	rs80357954
Map	rs80357954
PheGenI	rs80357954
Biobank	rs80357954
1000 genomes	rs80357954
hgdp	rs80357954
ensembl	rs80357954
geneview	rs80357954
scholar	rs80357954
google	rs80357954
pharmgkb	rs80357954
gwascentral	rs80357954
openSNP	rs80357954
23andMe	rs80357954
SNPshot	rs80357954
SNPdbe	rs80357954
MSV3d	rs80357954
GWAS Ctlg	rs80357954

Max Magnitude

6

rs80357954, also known as 1207delA, c.1088_1088delA and p.Asn363Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357954(-;-)
Alt	rs80357954(-;-)
Reference	Rs80357954(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246460delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047336.2, RCV000111544.3,