rs80357978

minus

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

Make rs80357978(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094195

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357978
dbSNP (classic)	rs80357978
ClinGen	rs80357978
ebi	rs80357978
HLI	rs80357978
Exac	rs80357978
Gnomad	rs80357978
Varsome	rs80357978
LitVar	rs80357978
Map	rs80357978
PheGenI	rs80357978
Biobank	rs80357978
1000 genomes	rs80357978
hgdp	rs80357978
ensembl	rs80357978
geneview	rs80357978
scholar	rs80357978
google	rs80357978
pharmgkb	rs80357978
gwascentral	rs80357978
openSNP	rs80357978
23andMe	rs80357978
SNPshot	rs80357978
SNPdbe	rs80357978
MSV3d	rs80357978
GWAS Ctlg	rs80357978

Max Magnitude

6

rs80357978, also known as 1454delAA, c.1335_1336delAA and p.Glu445_Arg446GluSerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357978(-;-)
Alt	rs80357978(-;-)
Reference	Rs80357978(AA;AA)
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.41246212_41246213delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047423.2, RCV000111591.3,