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rs200484060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 3 Likely miscall if from Ancestry data; otherwise, ARVC mutation
(G;T) 3 Likely miscall if from Ancestry data; otherwise, ARVC mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position31536370
GeneDSG2
is asnp
is mentioned by
dbSNPrs200484060
dbSNP (old)rs200484060
ClinGenrs200484060
ebirs200484060
HLIrs200484060
Exacrs200484060
Gnomadrs200484060
Varsomers200484060
Maprs200484060
PheGenIrs200484060
Biobankrs200484060
1000 genomesrs200484060
hgdprs200484060
ensemblrs200484060
gopubmedrs200484060
geneviewrs200484060
scholarrs200484060
googlers200484060
pharmgkbrs200484060
gwascentralrs200484060
openSNPrs200484060
23andMers200484060
23andMe allrs200484060
SNP Nexus

SNPshotrs200484060
SNPdbers200484060
MSV3drs200484060
GWAS Ctlgrs200484060
Max Magnitude3

aka c.1592T>G, p.Phe531Cys and F531C

The rare rs200484060(T) allele is a possible ARVC-related mutation in DSG2 of uncertain pathogenicity (since it's so rare); but when seen in data from Ancestry.com, we believe it to be a likely miscall.


ClinVar
Risk Rs200484060(G;G)
Alt Rs200484060(G;G)
Reference Rs200484060(T;T)
Significance Probable-Pathogenic
Disease not specified Arrhythmogenic right ventricular cardiomyopathy Dysplasia
Variation info
Gene DSG2
CLNDBN not specified Arrhythmogenic right ventricular cardiomyopathy Dysplasia, arrhythmogenic right ventricular
Reversed 0
HGVS NC_000018.9:g.29116333T>G
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000037268.2, RCV000168632.2, RCV000171833.2,