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rs273897659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
(G;AA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273897659(AA;G)
Make rs273897659(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094141
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897659
ebirs273897659
HLIrs273897659
Exacrs273897659
Varsomers273897659
Maprs273897659
PheGenIrs273897659
hapmaprs273897659
1000 genomesrs273897659
hgdprs273897659
ensemblrs273897659
gopubmedrs273897659
geneviewrs273897659
scholarrs273897659
googlers273897659
pharmgkbrs273897659
gwascentralrs273897659
openSNPrs273897659
23andMers273897659
23andMe allrs273897659
SNP Nexus

SNPshotrs273897659
SNPdbers273897659
MSV3drs273897659
GWAS Ctlgrs273897659
Max Magnitude6
rs273897659, also known as 1508delAAinsG, c.1389_1390delAAinsG and p.Lys463_Thr464LysProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897659(G;G)
Alt rs273897659(G;G)
Reference rs273897659(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41246158_41246159delTTinsC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030990.4, RCV000213424.1,