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rs80357520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TA) 6 BRCA1 variant considered pathogenic for breast cancer
(TA;TA) 0 Normal


Make rs80357520(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091771
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357520
ebirs80357520
HLIrs80357520
Exacrs80357520
Varsomers80357520
Maprs80357520
PheGenIrs80357520
hapmaprs80357520
1000 genomesrs80357520
hgdprs80357520
ensemblrs80357520
gopubmedrs80357520
geneviewrs80357520
scholarrs80357520
googlers80357520
pharmgkbrs80357520
gwascentralrs80357520
openSNPrs80357520
23andMers80357520
23andMe allrs80357520
SNP Nexus

SNPshotrs80357520
SNPdbers80357520
MSV3drs80357520
GWAS Ctlgrs80357520
Max Magnitude6
rs80357520, also known as 3878delTA, c.3759_3760delTA and p.Ser1253_Lys1254SerGlufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357520(;)
Alt rs80357520(;)
Reference rs80357520(TA;TA)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41243788_41243789delTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031125.4, RCV000048317.3, RCV000223389.1,