Have questions? Visit https://www.reddit.com/r/SNPedia

rs273899707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAA;AAA) 0 common in clinvar
(C;AAA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273899707(AAA;C)
Make rs273899707(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092052
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899707
ebirs273899707
HLIrs273899707
Exacrs273899707
Varsomers273899707
Maprs273899707
PheGenIrs273899707
hapmaprs273899707
1000 genomesrs273899707
hgdprs273899707
ensemblrs273899707
gopubmedrs273899707
geneviewrs273899707
scholarrs273899707
googlers273899707
pharmgkbrs273899707
gwascentralrs273899707
openSNPrs273899707
23andMers273899707
23andMe allrs273899707
SNP Nexus

SNPshotrs273899707
SNPdbers273899707
MSV3drs273899707
GWAS Ctlgrs273899707
Max Magnitude6
rs273899707, also known as 3596delAAAinsC, c.3477_3479delAAAinsC and p.Ile1159_Lys1160IleGlyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899707(C;C)
Alt rs273899707(C;C)
Reference rs273899707(AAA;AAA)
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.41244069_41244071delTTTinsG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048208.2, RCV000083195.3,