rs80357844

minus

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

Make rs80357844(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094602

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357844
dbSNP (classic)	rs80357844
ClinGen	rs80357844
ebi	rs80357844
HLI	rs80357844
Exac	rs80357844
Gnomad	rs80357844
Varsome	rs80357844
LitVar	rs80357844
Map	rs80357844
PheGenI	rs80357844
Biobank	rs80357844
1000 genomes	rs80357844
hgdp	rs80357844
ensembl	rs80357844
geneview	rs80357844
scholar	rs80357844
google	rs80357844
pharmgkb	rs80357844
gwascentral	rs80357844
openSNP	rs80357844
23andMe	rs80357844
SNPshot	rs80357844
SNPdbe	rs80357844
MSV3d	rs80357844
GWAS Ctlg	rs80357844

Max Magnitude

6

rs80357844, also known as 1048delA, c.929_929delA and p.Gln310Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357844(-;-)
Alt	rs80357844(-;-)
Reference	Rs80357844(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41246619delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031289.8, RCV000049194.2, RCV000131986.2, RCV000235314.1,