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rs80357954

From SNPedia

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


Make rs80357954(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094443
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357954
ebirs80357954
HLIrs80357954
Exacrs80357954
Varsomers80357954
Maprs80357954
PheGenIrs80357954
hapmaprs80357954
1000 genomesrs80357954
hgdprs80357954
ensemblrs80357954
gopubmedrs80357954
geneviewrs80357954
scholarrs80357954
googlers80357954
pharmgkbrs80357954
gwascentralrs80357954
openSNPrs80357954
23andMers80357954
23andMe allrs80357954
SNP Nexus

SNPshotrs80357954
SNPdbers80357954
MSV3drs80357954
GWAS Ctlgrs80357954
Max Magnitude6
rs80357954, also known as 1207delA, c.1088_1088delA and p.Asn363Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357954(;)
Alt rs80357954(;)
Reference rs80357954(A;A)
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.41246460delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047336.2, RCV000111544.1,