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rs80357996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357996(-;-)
Make rs80357996(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092200
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357996
ebirs80357996
HLIrs80357996
Exacrs80357996
Varsomers80357996
Maprs80357996
PheGenIrs80357996
hapmaprs80357996
1000 genomesrs80357996
hgdprs80357996
ensemblrs80357996
gopubmedrs80357996
geneviewrs80357996
scholarrs80357996
googlers80357996
pharmgkbrs80357996
gwascentralrs80357996
openSNPrs80357996
23andMers80357996
23andMe allrs80357996
SNP Nexus

SNPshotrs80357996
SNPdbers80357996
MSV3drs80357996
GWAS Ctlgrs80357996
Max Magnitude6
rs80357996, also known as 3449insA, c.3330_3331insA and p.Lys1110_Gln1111?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357996(A;A)
Alt rs80357996(A;A)
Reference rs80357996(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244217_41244218insT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112069.1,