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rs80357621

From SNPedia

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


Make rs80357621(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092000
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357621
ebirs80357621
HLIrs80357621
Exacrs80357621
Varsomers80357621
Maprs80357621
PheGenIrs80357621
hapmaprs80357621
1000 genomesrs80357621
hgdprs80357621
ensemblrs80357621
gopubmedrs80357621
geneviewrs80357621
scholarrs80357621
googlers80357621
pharmgkbrs80357621
gwascentralrs80357621
openSNPrs80357621
23andMers80357621
23andMe allrs80357621
SNP Nexus

SNPshotrs80357621
SNPdbers80357621
MSV3drs80357621
GWAS Ctlgrs80357621
Max Magnitude6
rs80357621, also known as 3650delT, c.3531_3531delT and p.Phe1177Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357621(;)
Alt rs80357621(;)
Reference rs80357621(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.41244017delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048224.3, RCV000112111.1,