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rs80357838

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357838(-;-)
Make rs80357838(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43049143
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357838
ebirs80357838
HLIrs80357838
Exacrs80357838
Varsomers80357838
Maprs80357838
PheGenIrs80357838
hapmaprs80357838
1000 genomesrs80357838
hgdprs80357838
ensemblrs80357838
gopubmedrs80357838
geneviewrs80357838
scholarrs80357838
googlers80357838
pharmgkbrs80357838
gwascentralrs80357838
openSNPrs80357838
23andMers80357838
23andMe allrs80357838
SNP Nexus

SNPshotrs80357838
SNPdbers80357838
MSV3drs80357838
GWAS Ctlgrs80357838
Max Magnitude6
rs80357838, also known as 5502insT, c.5383_5384insT and p.Leu1795?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357838(T;T)
Alt rs80357838(T;T)
Reference rs80357838(;)
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.41201158dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048969.2, RCV000112631.1,