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rs80357624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;GA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357624(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092275
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357624
ebirs80357624
HLIrs80357624
Exacrs80357624
Varsomers80357624
Maprs80357624
PheGenIrs80357624
hapmaprs80357624
1000 genomesrs80357624
hgdprs80357624
ensemblrs80357624
gopubmedrs80357624
geneviewrs80357624
scholarrs80357624
googlers80357624
pharmgkbrs80357624
gwascentralrs80357624
openSNPrs80357624
23andMers80357624
23andMe allrs80357624
SNP Nexus

SNPshotrs80357624
SNPdbers80357624
MSV3drs80357624
GWAS Ctlgrs80357624
Max Magnitude6
rs80357624, also known as 3374insGA, c.3255_3256insGA and p.Arg1085_Leu1086?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357624(GAT,AT;GAT,AT)
Alt rs80357624(GAT,AT;GAT,AT)
Reference rs80357624(T;T)
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.41244293_41244294dupTC; NC_000017.10:g.41244293dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048110.2, RCV000143832.2, RCV000048111.2, RCV000112035.1,