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rs80357856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TGAGA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357856(-;-)
Make rs80357856(TGAGA;TGAGA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092478
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357856
ebirs80357856
HLIrs80357856
Exacrs80357856
Varsomers80357856
Maprs80357856
PheGenIrs80357856
hapmaprs80357856
1000 genomesrs80357856
hgdprs80357856
ensemblrs80357856
gopubmedrs80357856
geneviewrs80357856
scholarrs80357856
googlers80357856
pharmgkbrs80357856
gwascentralrs80357856
openSNPrs80357856
23andMers80357856
23andMe allrs80357856
SNP Nexus

SNPshotrs80357856
SNPdbers80357856
MSV3drs80357856
GWAS Ctlgrs80357856
Max Magnitude6
rs80357856, also known as 3171ins5, c.3052_3053insTGAGA and p.Asn1018?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. This mutation was originally reported as a founder mutation in western Sweden.

This name appears to be renamed i5009624 by 23andMe.


ClinVar
Risk rs80357856(TGAGA;TGAGA)
Alt rs80357856(TGAGA;TGAGA)
Reference rs80357856(;)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244496_41244500dupTCTCA
CLNSRC
CLNACC RCV000048059.2,