rs397507246

Merged into

rs80357906

Orientation

minus

Stabilized

minus

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

Make rs397507246(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057063

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397507246
dbSNP (classic)	rs397507246
ClinGen	rs397507246
ebi	rs397507246
HLI	rs397507246
Exac	rs397507246
Gnomad	rs397507246
Varsome	rs397507246
LitVar	rs397507246
Map	rs397507246
PheGenI	rs397507246
Biobank	rs397507246
1000 genomes	rs397507246
hgdp	rs397507246
ensembl	rs397507246
geneview	rs397507246
scholar	rs397507246
google	rs397507246
pharmgkb	rs397507246
gwascentral	rs397507246
openSNP	rs397507246
23andMe	rs397507246
SNPshot	rs397507246
SNPdbe	rs397507246
MSV3d	rs397507246
GWAS Ctlg	rs397507246

Status

Merged into rs80357906

Max Magnitude

6

c.5266dupC (p.Gln1756Profs)

ClinVar
Risk	rs397507246(C;C)
Alt	rs397507246(C;C)
Reference	Rs397507246(;)
Significance	Other
Disease	Breast-ovarian cancer Pancreatic cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41209082dupG
CLNSRC	Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC	RCV000019246.18, RCV000019247.3, RCV000056287.6, RCV000119097.6, RCV000131328.4,