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rs273897664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273897664(-;-)
Make rs273897664(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093835
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897664
ebirs273897664
HLIrs273897664
Exacrs273897664
Varsomers273897664
Maprs273897664
PheGenIrs273897664
hapmaprs273897664
1000 genomesrs273897664
hgdprs273897664
ensemblrs273897664
gopubmedrs273897664
geneviewrs273897664
scholarrs273897664
googlers273897664
pharmgkbrs273897664
gwascentralrs273897664
openSNPrs273897664
23andMers273897664
23andMe allrs273897664
SNP Nexus

SNPshotrs273897664
SNPdbers273897664
MSV3drs273897664
GWAS Ctlgrs273897664
Max Magnitude6
rs273897664, also known as 1814insG, c.1695_1696insG and p.Glu565_Lys566?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897664(G;G)
Alt rs273897664(G;G)
Reference rs273897664(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245853dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111665.1,