rs80357763

minus

Geno	Mag	Summary
(-;AAAT)	6	BRCA1 variant considered pathogenic for breast cancer
(-;TAAA)	6	BRCA1 variant considered pathogenic for breast cancer
(AAAT;AAAT)	0	common/normal
(TAAA;TAAA)	0	common in clinvar

Make rs80357763(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092208

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357763
dbSNP (classic)	rs80357763
ClinGen	rs80357763
ebi	rs80357763
HLI	rs80357763
Exac	rs80357763
Gnomad	rs80357763
Varsome	rs80357763
LitVar	rs80357763
Map	rs80357763
PheGenI	rs80357763
Biobank	rs80357763
1000 genomes	rs80357763
hgdp	rs80357763
ensembl	rs80357763
geneview	rs80357763
scholar	rs80357763
google	rs80357763
pharmgkb	rs80357763
gwascentral	rs80357763
openSNP	rs80357763
23andMe	rs80357763
SNPshot	rs80357763
SNPdbe	rs80357763
MSV3d	rs80357763
GWAS Ctlg	rs80357763

Merged from

Rs397509055

Max Magnitude

6

rs80357763, also known as 3439del4, c.3320_3323delAAAT and p.Glu1107_Ile1108?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357763(TAAA;TAAA) rs80357763(-;-)
Alt	Rs80357763(TAAA;TAAA) rs80357763(-;-)
Reference	Rs80357763(AAAT;AAAT)
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.41244222_41244225delTTTA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048142.2, RCV000112059.2,