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rs80356997

From SNPedia

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


Make rs80356997(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076583
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356997
ebirs80356997
HLIrs80356997
Exacrs80356997
Varsomers80356997
Maprs80356997
PheGenIrs80356997
hapmaprs80356997
1000 genomesrs80356997
hgdprs80356997
ensemblrs80356997
gopubmedrs80356997
geneviewrs80356997
scholarrs80356997
googlers80356997
pharmgkbrs80356997
gwascentralrs80356997
openSNPrs80356997
23andMers80356997
23andMe allrs80356997
SNP Nexus

SNPshotrs80356997
SNPdbers80356997
MSV3drs80356997
GWAS Ctlgrs80356997
Max Magnitude6
rs80356997, also known as Y1463X, c.4389C>A and p.Tyr1463Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356997(A,G,T;A,G,T)
Alt rs80356997(A,G,T;A,G,T)
Reference rs80356997(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41228600G>C; NC_000017.10:g.41228600G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000132271.2, RCV000048544.3, RCV000112330.1, RCV000162877.1, RCV000236736.1,