rs80357680

minus

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

Make rs80357680(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092202

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357680
dbSNP (classic)	rs80357680
ClinGen	rs80357680
ebi	rs80357680
HLI	rs80357680
Exac	rs80357680
Gnomad	rs80357680
Varsome	rs80357680
LitVar	rs80357680
Map	rs80357680
PheGenI	rs80357680
Biobank	rs80357680
1000 genomes	rs80357680
hgdp	rs80357680
ensembl	rs80357680
geneview	rs80357680
scholar	rs80357680
google	rs80357680
pharmgkb	rs80357680
gwascentral	rs80357680
openSNP	rs80357680
23andMe	rs80357680
SNPshot	rs80357680
SNPdbe	rs80357680
MSV3d	rs80357680
GWAS Ctlg	rs80357680

Max Magnitude

6

rs80357680, also known as 3444del5, c.3325_3329delAAAAA and p.Lys1109_Lys1110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357680(-;-)
Alt	rs80357680(-;-)
Reference	Rs80357680(AAAAA;AAAAA)
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.41244219_41244223delTTTTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048143.2, RCV000112061.2,