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rs80357519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357519(-;-)
Make rs80357519(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092695
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357519
ebirs80357519
HLIrs80357519
Exacrs80357519
Varsomers80357519
Maprs80357519
PheGenIrs80357519
hapmaprs80357519
1000 genomesrs80357519
hgdprs80357519
ensemblrs80357519
gopubmedrs80357519
geneviewrs80357519
scholarrs80357519
googlers80357519
pharmgkbrs80357519
gwascentralrs80357519
openSNPrs80357519
23andMers80357519
23andMe allrs80357519
SNP Nexus

SNPshotrs80357519
SNPdbers80357519
MSV3drs80357519
GWAS Ctlgrs80357519
Max Magnitude6
rs80357519, also known as 2954insT, c.2835_2836insT and p.Ser945_Ile946?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357519(T;T)
Alt rs80357519(T;T)
Reference rs80357519(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244713dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047986.2, RCV000111948.1, RCV000221882.1,