rs80357647

minus

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

Make rs80357647(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092437

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357647
dbSNP (classic)	rs80357647
ClinGen	rs80357647
ebi	rs80357647
HLI	rs80357647
Exac	rs80357647
Gnomad	rs80357647
Varsome	rs80357647
LitVar	rs80357647
Map	rs80357647
PheGenI	rs80357647
Biobank	rs80357647
1000 genomes	rs80357647
hgdp	rs80357647
ensembl	rs80357647
geneview	rs80357647
scholar	rs80357647
google	rs80357647
pharmgkb	rs80357647
gwascentral	rs80357647
openSNP	rs80357647
23andMe	rs80357647
SNPshot	rs80357647
SNPdbe	rs80357647
MSV3d	rs80357647
GWAS Ctlg	rs80357647

Max Magnitude

6

rs80357647, also known as 3203del11, c.3084_3094delTAATAACATTA and p.Arg1028_Arg1032?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357647(-;-)
Alt	rs80357647(-;-)
Reference	Rs80357647(TAATAACATTA;TAATAACATTA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244454_41244464delTAATGTTATTA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048068.4, RCV000077537.6, RCV000213895.1, RCV000255873.1,