rs80357973

Orientation

minus

Stabilized

minus

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

Make rs80357973(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43045793

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357973
dbSNP (classic)	rs80357973
ClinGen	rs80357973
ebi	rs80357973
HLI	rs80357973
Exac	rs80357973
Gnomad	rs80357973
Varsome	rs80357973
LitVar	rs80357973
Map	rs80357973
PheGenI	rs80357973
Biobank	rs80357973
1000 genomes	rs80357973
hgdp	rs80357973
ensembl	rs80357973
geneview	rs80357973
scholar	rs80357973
google	rs80357973
pharmgkb	rs80357973
gwascentral	rs80357973
openSNP	rs80357973
23andMe	rs80357973
SNPshot	rs80357973
SNPdbe	rs80357973
MSV3d	rs80357973
GWAS Ctlg	rs80357973

Max Magnitude

6

BRCA1, c.5470_5477delATTGGGCA (p.Ile1824Aspfs)

ClinVar
Risk	rs80357973(-;-)
Alt	rs80357973(-;-)
Reference	Rs80357973(ATTGGGCA;ATTGGGCA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast not provided
Reversed	1
HGVS	NC_000017.10:g.41197810_41197817delTGCCCAAT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049010.3, RCV000112668.3, RCV000131859.3, RCV000240711.1, RCV000480110.1,