chr3:33016743:C>T Detail (hg38) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,058,235-33,058,235 View the variant detail on this assembly version.
hg38 chr3:33,016,743-33,016,743

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.1445G>A NP_000395.2:p.Arg482His
NM_001317040.1:c.1445G>A NP_001303969.1:p.Arg482His
NM_001135602.2:c.1052G>A NP_001129074.1:p.Arg351His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 611458 OMIM
HGNC 4298 HGNC
Ensembl ENSG00000170266 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-10-19 criteria provided, single submitter Infantile GM1 gangliosidosis germline Detail
Pathogenic 2018-02-13 no assertion criteria provided Mucopolysaccharidosis, MPS-IV-B germline unknown Detail
Pathogenic 2023-03-07 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2016-08-09 criteria provided, single submitter GM1 gangliosidosis germline Detail
Pathogenic 2024-01-27 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis germline Detail
Pathogenic 2024-01-27 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis germline Detail
Pathogenic 2021-12-20 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis unknown Detail
Pathogenic 2021-12-20 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis unknown Detail
Pathogenic 2021-12-20 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis unknown Detail
Pathogenic 2021-12-20 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.367 mucopolysaccharidosis type IVB Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.126 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.003 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.001 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.567 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.001 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.004 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.367 mucopolysaccharidosis type IVB NA CLINVAR Detail
0.362 Gangliosidosis, Generalized GM1, Type 1 (disorder) NA CLINVAR Detail
<0.001 congenital heart defects Interestingly, all patients with cardiac involvement were homozygous for one of ... BeFree 10737981 Detail
0.441 Gangliosidosis, Generalized GM1, Type 2 NA CLINVAR Detail
0.361 Gangliosidosis, Generalized GM1, Type 3 NA CLINVAR Detail
<0.001 congenital heart defects Interestingly, all patients with cardiac involvement were homozygous for one of ... BeFree 10737981 Detail
<0.001 Cardiomyopathies Interestingly, all patients with cardiac involvement were homozygous for one of ... BeFree 10737981 Detail
<0.001 Cardiomyopathies Interestingly, all patients with cardiac involvement were homozygous for one of ... BeFree 10737981 Detail
0.149 Gangliosidosis GM1 The Arg482His mutation in the beta-galactosidase gene is responsible for a high ... BeFree 15943552 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND Infantile GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND Mucopolysaccharidosis, MPS-IV-B ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND not provided ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND multiple conditions ClinVar Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59... DisGeNET Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59... DisGeNET Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59... DisGeNET Detail
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gan... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs72555391 dbSNP
Genome
hg38
Position
chr3:33,016,743-33,016,743
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1592858798979828E-4
Chromosome Counts in All Race (ExAC)
120772
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.280064915708939E-6
Genome browser