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rs80357803

From SNPedia

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


Make rs80357803(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124033
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357803
ebirs80357803
HLIrs80357803
Exacrs80357803
Varsomers80357803
Maprs80357803
PheGenIrs80357803
hapmaprs80357803
1000 genomesrs80357803
hgdprs80357803
ensemblrs80357803
gopubmedrs80357803
geneviewrs80357803
scholarrs80357803
googlers80357803
pharmgkbrs80357803
gwascentralrs80357803
openSNPrs80357803
23andMers80357803
23andMe allrs80357803
SNP Nexus

SNPshotrs80357803
SNPdbers80357803
MSV3drs80357803
GWAS Ctlgrs80357803
Max Magnitude6
rs80357803, also known as 183delT, c.64_64delT and p.Leu22Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357803(;)
Alt rs80357803(;)
Reference rs80357803(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276050delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049079.2, RCV000111669.1,