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rs273900714

From SNPedia

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


Make rs273900714(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091814
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900714
ebirs273900714
HLIrs273900714
Exacrs273900714
Varsomers273900714
Maprs273900714
PheGenIrs273900714
hapmaprs273900714
1000 genomesrs273900714
hgdprs273900714
ensemblrs273900714
gopubmedrs273900714
geneviewrs273900714
scholarrs273900714
googlers273900714
pharmgkbrs273900714
gwascentralrs273900714
openSNPrs273900714
23andMers273900714
23andMe allrs273900714
SNP Nexus

SNPshotrs273900714
SNPdbers273900714
MSV3drs273900714
GWAS Ctlgrs273900714
Max Magnitude6
rs273900714, also known as 3834delTCTinsC, c.3715_3717delTCTinsC and p.Ser1239Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900714(C;C)
Alt rs273900714(C;C)
Reference rs273900714(TCT;TCT)
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.41243831_41243833delAGAinsG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048298.2, RCV000112163.1,