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rs80357835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357835(-;-)
Make rs80357835(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092973
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357835
ebirs80357835
HLIrs80357835
Exacrs80357835
Varsomers80357835
Maprs80357835
PheGenIrs80357835
hapmaprs80357835
1000 genomesrs80357835
hgdprs80357835
ensemblrs80357835
gopubmedrs80357835
geneviewrs80357835
scholarrs80357835
googlers80357835
pharmgkbrs80357835
gwascentralrs80357835
openSNPrs80357835
23andMers80357835
23andMe allrs80357835
SNP Nexus

SNPshotrs80357835
SNPdbers80357835
MSV3drs80357835
GWAS Ctlgrs80357835
Max Magnitude6
rs80357835, also known as 2676insA, c.2557_2558insA and p.Asp853?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357835(A;A)
Alt rs80357835(A;A)
Reference rs80357835(;)
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.41244990dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047876.2, RCV000111888.2,