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rs273897658

From SNPedia

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


Make rs273897658(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094144
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897658
ebirs273897658
HLIrs273897658
Exacrs273897658
Varsomers273897658
Maprs273897658
PheGenIrs273897658
hapmaprs273897658
1000 genomesrs273897658
hgdprs273897658
ensemblrs273897658
gopubmedrs273897658
geneviewrs273897658
scholarrs273897658
googlers273897658
pharmgkbrs273897658
gwascentralrs273897658
openSNPrs273897658
23andMers273897658
23andMe allrs273897658
SNP Nexus

SNPshotrs273897658
SNPdbers273897658
MSV3drs273897658
GWAS Ctlgrs273897658
Max Magnitude6
rs273897658, also known as 1506delA, c.1387_1387delA and p.Lys463=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897658(;)
Alt rs273897658(;)
Reference rs273897658(A;A)
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.41246158delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047457.2, RCV000111604.2,