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rs273897653

From SNPedia

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


Make rs273897653(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094365
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897653
ebirs273897653
HLIrs273897653
Exacrs273897653
Varsomers273897653
Maprs273897653
PheGenIrs273897653
hapmaprs273897653
1000 genomesrs273897653
hgdprs273897653
ensemblrs273897653
gopubmedrs273897653
geneviewrs273897653
scholarrs273897653
googlers273897653
pharmgkbrs273897653
gwascentralrs273897653
openSNPrs273897653
23andMers273897653
23andMe allrs273897653
SNP Nexus

SNPshotrs273897653
SNPdbers273897653
MSV3drs273897653
GWAS Ctlgrs273897653
Max Magnitude6
rs273897653, also known as 1285delG, c.1166_1166delG and p.Ser389Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897653(;)
Alt rs273897653(;)
Reference rs273897653(G;G)
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.41246382delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047369.2, RCV000111563.1,