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rs273898679

From SNPedia

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


Make rs273898679(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093389
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273898679
ebirs273898679
HLIrs273898679
Exacrs273898679
Varsomers273898679
Maprs273898679
PheGenIrs273898679
hapmaprs273898679
1000 genomesrs273898679
hgdprs273898679
ensemblrs273898679
gopubmedrs273898679
geneviewrs273898679
scholarrs273898679
googlers273898679
pharmgkbrs273898679
gwascentralrs273898679
openSNPrs273898679
23andMers273898679
23andMe allrs273898679
SNP Nexus

SNPshotrs273898679
SNPdbers273898679
MSV3drs273898679
GWAS Ctlgrs273898679
Max Magnitude6
rs273898679, also known as 2261delT, c.2142_2142delT and p.Asn714Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273898679(;)
Alt rs273898679(;)
Reference rs273898679(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.41245406delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047731.2, RCV000111776.1,