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rs80357692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357692(-;-)
Make rs80357692(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092201
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357692
ebirs80357692
HLIrs80357692
Exacrs80357692
Varsomers80357692
Maprs80357692
PheGenIrs80357692
hapmaprs80357692
1000 genomesrs80357692
hgdprs80357692
ensemblrs80357692
gopubmedrs80357692
geneviewrs80357692
scholarrs80357692
googlers80357692
pharmgkbrs80357692
gwascentralrs80357692
openSNPrs80357692
23andMers80357692
23andMe allrs80357692
SNP Nexus

SNPshotrs80357692
SNPdbers80357692
MSV3drs80357692
GWAS Ctlgrs80357692
Max Magnitude6
rs80357692, also known as 3448insA, c.3329_3330insA and p.Lys1110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357692(A;A)
Alt rs80357692(A;A)
Reference rs80357692(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244219dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048148.2, RCV000112067.1, RCV000166572.1,