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rs80357812

From SNPedia

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


Make rs80357812(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092765
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357812
ebirs80357812
HLIrs80357812
Exacrs80357812
Varsomers80357812
Maprs80357812
PheGenIrs80357812
hapmaprs80357812
1000 genomesrs80357812
hgdprs80357812
ensemblrs80357812
gopubmedrs80357812
geneviewrs80357812
scholarrs80357812
googlers80357812
pharmgkbrs80357812
gwascentralrs80357812
openSNPrs80357812
23andMers80357812
23andMe allrs80357812
SNP Nexus

SNPshotrs80357812
SNPdbers80357812
MSV3drs80357812
GWAS Ctlgrs80357812
Max Magnitude6
rs80357812, also known as 2885delA, c.2766_2766delA and p.Thr922=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357812(;)
Alt rs80357812(;)
Reference rs80357812(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000017.10:g.41244782delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047965.3, RCV000083189.4, RCV000213211.1, RCV000236621.1,