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rs80357781

From SNPedia

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


Make rs80357781(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092051
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357781
ebirs80357781
HLIrs80357781
Exacrs80357781
Varsomers80357781
Maprs80357781
PheGenIrs80357781
hapmaprs80357781
1000 genomesrs80357781
hgdprs80357781
ensemblrs80357781
gopubmedrs80357781
geneviewrs80357781
scholarrs80357781
googlers80357781
pharmgkbrs80357781
gwascentralrs80357781
openSNPrs80357781
23andMers80357781
23andMe allrs80357781
SNP Nexus

SNPshotrs80357781
SNPdbers80357781
MSV3drs80357781
GWAS Ctlgrs80357781
Max Magnitude6
rs80357781, also known as 3596del4, c.3477_3480delAAAG and p.Ile1159_Lys1160?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357781(;)
Alt rs80357781(;)
Reference rs80357781(AAAG;AAAG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000017.10:g.41244068_41244071delCTTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048209.2, RCV000077550.3, RCV000215402.1, RCV000235430.1,