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rs80357602

From SNPedia

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


Make rs80357602(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093277
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357602
ebirs80357602
HLIrs80357602
Exacrs80357602
Varsomers80357602
Maprs80357602
PheGenIrs80357602
hapmaprs80357602
1000 genomesrs80357602
hgdprs80357602
ensemblrs80357602
gopubmedrs80357602
geneviewrs80357602
scholarrs80357602
googlers80357602
pharmgkbrs80357602
gwascentralrs80357602
openSNPrs80357602
23andMers80357602
23andMe allrs80357602
SNP Nexus

SNPshotrs80357602
SNPdbers80357602
MSV3drs80357602
GWAS Ctlgrs80357602
Max Magnitude6
rs80357602, also known as 2372delGT, c.2253_2254delGT and p.Met751_Leu752IleLysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357602(;)
Alt rs80357602(;)
Reference rs80357602(GT;GT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245294_41245295delAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047775.2, RCV000111808.1,