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rs72552293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72552293(A;G)
Make rs72552293(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position32140231
GeneGPD1L
is asnp
is mentioned by
dbSNPrs72552293
ebirs72552293
HLIrs72552293
Exacrs72552293
Varsomers72552293
Maprs72552293
PheGenIrs72552293
hapmaprs72552293
1000 genomesrs72552293
hgdprs72552293
ensemblrs72552293
gopubmedrs72552293
geneviewrs72552293
scholarrs72552293
googlers72552293
pharmgkbrs72552293
gwascentralrs72552293
openSNPrs72552293
23andMers72552293
23andMe allrs72552293
SNP Nexus

SNPshotrs72552293
SNPdbers72552293
MSV3drs72552293
GWAS Ctlgrs72552293
GMAF0.001377
Max Magnitude0
OMIM611778
Desc
Variant0003
Relatedalso
ClinVar
Risk rs72552293(G;G)
Alt rs72552293(G;G)
Reference rs72552293(A;A)
Significance Other
Disease Brugada syndrome 2 SUDDEN INFANT DEATH SYNDROME Long QT syndrome Primary familial hypertrophic cardiomyopathy not specified Brugada syndrome
Variation info
Gene GPD1L
CLNDBN Brugada syndrome 2 SUDDEN INFANT DEATH SYNDROME Long QT syndrome Primary familial hypertrophic cardiomyopathy not specified Brugada syndrome
Reversed 0
HGVS NC_000003.11:g.32181723A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000824.2, RCV000029945.2, RCV000157243.1, RCV000170920.3, RCV000203752.2,


[PMID 17967976OA-icon.png] Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.


[PMID 19606473] The genetic basis of Brugada syndrome: a mutation update.


[PMID 19815826] Cardiac metabolic state and Brugada syndrome: a link revealed.

GET Evidence
GPD1L-I124V
aa_change Ile124Val
aa_change_short I124V
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.00111545
summary Found in a single SIDS case (out of 304 total cases). Although the authors described a functional impact of the variant in cell lines, the findings in human subjects did not have statistical significance and there is currently no clinical testing for variants in this gene.