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rs80357577

From SNPedia

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


Make rs80357577(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092133
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357577
ebirs80357577
HLIrs80357577
Exacrs80357577
Varsomers80357577
Maprs80357577
PheGenIrs80357577
hapmaprs80357577
1000 genomesrs80357577
hgdprs80357577
ensemblrs80357577
gopubmedrs80357577
geneviewrs80357577
scholarrs80357577
googlers80357577
pharmgkbrs80357577
gwascentralrs80357577
openSNPrs80357577
23andMers80357577
23andMe allrs80357577
SNP Nexus

SNPshotrs80357577
SNPdbers80357577
MSV3drs80357577
GWAS Ctlgrs80357577
Max Magnitude6
rs80357577, also known as 3516delTT, c.3397_3398delTT and p.Leu1133Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357577(;)
Alt rs80357577(;)
Reference rs80357577(TT;TT)
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.41244150_41244151delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048175.2, RCV000112085.2,