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rs273899699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273899699(-;-)
Make rs273899699(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092426
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899699
ebirs273899699
HLIrs273899699
Exacrs273899699
Varsomers273899699
Maprs273899699
PheGenIrs273899699
hapmaprs273899699
1000 genomesrs273899699
hgdprs273899699
ensemblrs273899699
gopubmedrs273899699
geneviewrs273899699
scholarrs273899699
googlers273899699
pharmgkbrs273899699
gwascentralrs273899699
openSNPrs273899699
23andMers273899699
23andMe allrs273899699
SNP Nexus

SNPshotrs273899699
SNPdbers273899699
MSV3drs273899699
GWAS Ctlgrs273899699
Max Magnitude6
rs273899699, also known as 3223insT, c.3104_3105insT and p.Val1035?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899699(T;T)
Alt rs273899699(T;T)
Reference rs273899699(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244440dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031089.4, RCV000048072.2, RCV000130035.2,