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rs80357990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357990(-;-)
Make rs80357990(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093175
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357990
ebirs80357990
HLIrs80357990
Exacrs80357990
Varsomers80357990
Maprs80357990
PheGenIrs80357990
hapmaprs80357990
1000 genomesrs80357990
hgdprs80357990
ensemblrs80357990
gopubmedrs80357990
geneviewrs80357990
scholarrs80357990
googlers80357990
pharmgkbrs80357990
gwascentralrs80357990
openSNPrs80357990
23andMers80357990
23andMe allrs80357990
SNP Nexus

SNPshotrs80357990
SNPdbers80357990
MSV3drs80357990
GWAS Ctlgrs80357990
Max Magnitude6
rs80357990, also known as 2474insA, c.2355_2356insA and p.Leu785_Leu786?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357990(A;A)
Alt rs80357990(A;A)
Reference rs80357990(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245193dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111832.1,