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rs80357927

From SNPedia

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


Make rs80357927(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093719
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357927
ebirs80357927
HLIrs80357927
Exacrs80357927
Varsomers80357927
Maprs80357927
PheGenIrs80357927
hapmaprs80357927
1000 genomesrs80357927
hgdprs80357927
ensemblrs80357927
gopubmedrs80357927
geneviewrs80357927
scholarrs80357927
googlers80357927
pharmgkbrs80357927
gwascentralrs80357927
openSNPrs80357927
23andMers80357927
23andMe allrs80357927
SNP Nexus

SNPshotrs80357927
SNPdbers80357927
MSV3drs80357927
GWAS Ctlgrs80357927
Max Magnitude6
rs80357927, also known as 1931delA, c.1812_1812delA and p.Lys604=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357927(;)
Alt rs80357927(;)
Reference rs80357927(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245736delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111690.1, RCV000159902.2, RCV000166934.1, RCV000204705.2,