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rs273897663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;CG) 6 BRCA1 variant considered pathogenic for breast cancer
(GC;GC) 0 common in clinvar
Make rs273897663(GC;TA)
Make rs273897663(TA;TA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093969
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897663
ebirs273897663
HLIrs273897663
Exacrs273897663
Varsomers273897663
Maprs273897663
PheGenIrs273897663
hapmaprs273897663
1000 genomesrs273897663
hgdprs273897663
ensemblrs273897663
gopubmedrs273897663
geneviewrs273897663
scholarrs273897663
googlers273897663
pharmgkbrs273897663
gwascentralrs273897663
openSNPrs273897663
23andMers273897663
23andMe allrs273897663
SNP Nexus

SNPshotrs273897663
SNPdbers273897663
MSV3drs273897663
GWAS Ctlgrs273897663
Max Magnitude6
rs273897663, also known as A521X, c.1561_1562delGCinsTA and p.Ala521Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897663(TA;TA)
Alt rs273897663(TA;TA)
Reference rs273897663(GC;GC)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245986_41245987delGCinsTA
CLNSRC ClinVar
CLNACC RCV000111647.1,