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rs273897652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAC;CAC) 0 common in clinvar
(T;CAC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273897652(CAC;T)
Make rs273897652(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094408
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897652
ebirs273897652
HLIrs273897652
Exacrs273897652
Varsomers273897652
Maprs273897652
PheGenIrs273897652
hapmaprs273897652
1000 genomesrs273897652
hgdprs273897652
ensemblrs273897652
gopubmedrs273897652
geneviewrs273897652
scholarrs273897652
googlers273897652
pharmgkbrs273897652
gwascentralrs273897652
openSNPrs273897652
23andMers273897652
23andMe allrs273897652
SNP Nexus

SNPshotrs273897652
SNPdbers273897652
MSV3drs273897652
GWAS Ctlgrs273897652
Max Magnitude6
rs273897652, also known as 1240delCACinsT, c.1121_1123delCACinsT and p.Thr374_Leu375IleLysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897652(T;T)
Alt rs273897652(T;T)
Reference rs273897652(CAC;CAC)
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.41246425_41246427delGTGinsA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047350.2, RCV000111555.1,