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rs80357517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357517(-;-)
Make rs80357517(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092277
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357517
ebirs80357517
HLIrs80357517
Exacrs80357517
Varsomers80357517
Maprs80357517
PheGenIrs80357517
hapmaprs80357517
1000 genomesrs80357517
hgdprs80357517
ensemblrs80357517
gopubmedrs80357517
geneviewrs80357517
scholarrs80357517
googlers80357517
pharmgkbrs80357517
gwascentralrs80357517
openSNPrs80357517
23andMers80357517
23andMe allrs80357517
SNP Nexus

SNPshotrs80357517
SNPdbers80357517
MSV3drs80357517
GWAS Ctlgrs80357517
Max Magnitude6
rs80357517, also known as 3372insA, c.3253_3254insA and p.Arg1085?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357517(A;A)
Alt rs80357517(A;A)
Reference rs80357517(;)
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.41244295dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048109.2, RCV000077125.3,