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rs80357897

From SNPedia

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


Make rs80357897(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094444
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357897
ebirs80357897
HLIrs80357897
Exacrs80357897
Varsomers80357897
Maprs80357897
PheGenIrs80357897
hapmaprs80357897
1000 genomesrs80357897
hgdprs80357897
ensemblrs80357897
gopubmedrs80357897
geneviewrs80357897
scholarrs80357897
googlers80357897
pharmgkbrs80357897
gwascentralrs80357897
openSNPrs80357897
23andMers80357897
23andMe allrs80357897
SNP Nexus

SNPshotrs80357897
SNPdbers80357897
MSV3drs80357897
GWAS Ctlgrs80357897
Max Magnitude6
rs80357897, also known as 1205delGA, c.1086_1087delGA and p.Glu362_Asn363GluSerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357897(;)
Alt rs80357897(;)
Reference rs80357897(GA;GA)
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.41246461_41246462delTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047335.2, RCV000111543.1,