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rs80357600

From SNPedia

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


Make rs80357600(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093857
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357600
ebirs80357600
HLIrs80357600
Exacrs80357600
Varsomers80357600
Maprs80357600
PheGenIrs80357600
hapmaprs80357600
1000 genomesrs80357600
hgdprs80357600
ensemblrs80357600
gopubmedrs80357600
geneviewrs80357600
scholarrs80357600
googlers80357600
pharmgkbrs80357600
gwascentralrs80357600
openSNPrs80357600
23andMers80357600
23andMe allrs80357600
SNP Nexus

SNPshotrs80357600
SNPdbers80357600
MSV3drs80357600
GWAS Ctlgrs80357600
Max Magnitude6
rs80357600, also known as 1793delA, c.1674_1674delA and p.Lys558=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357600(;)
Alt rs80357600(;)
Reference rs80357600(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245874delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031006.4, RCV000047556.3,