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rs273900717

From SNPedia

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


Make rs273900717(AGGC;AGGC)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091688
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900717
ebirs273900717
HLIrs273900717
Exacrs273900717
Varsomers273900717
Maprs273900717
PheGenIrs273900717
hapmaprs273900717
1000 genomesrs273900717
hgdprs273900717
ensemblrs273900717
gopubmedrs273900717
geneviewrs273900717
scholarrs273900717
googlers273900717
pharmgkbrs273900717
gwascentralrs273900717
openSNPrs273900717
23andMers273900717
23andMe allrs273900717
SNP Nexus

SNPshotrs273900717
SNPdbers273900717
MSV3drs273900717
GWAS Ctlgrs273900717
Max Magnitude6
rs273900717, also known as 3958del5ins4, c.3839_3843delCTCAGinsAGGC and p.Ser1280_Gln1281TerAlafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900717(AGGC;AGGC)
Alt rs273900717(AGGC;AGGC)
Reference rs273900717(CTCAG;CTCAG)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243705_41243709delCTGAGinsGCCT
CLNSRC
CLNACC RCV000048349.2,