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rs72555392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72555392(A;A)
Make rs72555392(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33072613
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555392
ebirs72555392
HLIrs72555392
Exacrs72555392
Varsomers72555392
Maprs72555392
PheGenIrs72555392
hapmaprs72555392
1000 genomesrs72555392
hgdprs72555392
ensemblrs72555392
gopubmedrs72555392
geneviewrs72555392
scholarrs72555392
googlers72555392
pharmgkbrs72555392
gwascentralrs72555392
openSNPrs72555392
23andMers72555392
23andMe allrs72555392
SNP Nexus

SNPshotrs72555392
SNPdbers72555392
MSV3drs72555392
GWAS Ctlgrs72555392
Max Magnitude0
OMIM611458
Desc
Variant0023
Relatedalso


ClinVar
Risk rs72555392(A;A)
Alt rs72555392(A;A)
Reference rs72555392(G;G)
Significance Pathogenic
Disease Gm1-gangliosidosis Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3
Variation info
Gene TMPPE GLB1
CLNDBN Gm1-gangliosidosis, type I, with cardiac involvement Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3
Reversed 1
HGVS NC_000003.11:g.33114105C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000994.2, RCV000000995.2, RCV000059350.2, RCV000078708.3, RCV000175600.1, RCV000175601.1,



[PMID 10737981] beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.


[PMID 17309650] Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.