chr3:33114105:C>T Detail (hg19) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,114,105-33,114,105
hg38 chr3:33,072,613-33,072,613 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.176G>A NP_000395.2:p.Arg59His
NM_001317040.1:c.176G>A NP_001303969.1:p.Arg59His
NM_001135602.2:c.176G>A NP_001129074.1:p.Arg59His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 tgv11983264 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-03-01 no assertion criteria provided GM1-gangliosidosis, type I, with cardiac involvement germline Detail
Pathogenic 2021-07-27 criteria provided, multiple submitters, no conflicts Infantile GM1 gangliosidosis germline unknown Detail
Pathogenic 2017-12-18 no assertion criteria provided GM1 gangliosidosis type 2 somatic unknown Detail
Pathogenic 2023-07-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-11-29 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B germline unknown Detail
Pathogenic 2018-03-08 criteria provided, single submitter GM1 gangliosidosis germline Detail
Pathogenic 2024-01-22 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Pathogenic 2024-01-22 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Pathogenic 2021-08-07 criteria provided, multiple submitters, no conflicts GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3 germline unknown Detail
Pathogenic 2021-08-07 criteria provided, multiple submitters, no conflicts GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3 germline unknown Detail
Pathogenic 2021-08-07 criteria provided, multiple submitters, no conflicts GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3 germline unknown Detail
Pathogenic 2021-08-07 criteria provided, multiple submitters, no conflicts GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3 germline unknown Detail
Likely pathogenic 2019-01-09 criteria provided, single submitter GM1 gangliosidosis type 3 unknown Detail
Pathogenic 2021-06-04 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-01-05 criteria provided, single submitter GLB1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.004 Lysosomal Storage Diseases Here, we describe the first founder mutation leading to a lysosomal storage diso... BeFree 16466959 Detail
0.149 Gangliosidosis GM1 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-g... BeFree 16941474 Detail
0.362 Gangliosidosis, Generalized GM1, Type 1 (disorder) Here, we describe the first founder mutation leading to a lysosomal storage diso... BeFree 16466959 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND GM1-gangliosidosis, type I, with cardiac involvement ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND Infantile GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND GM1 gangliosidosis type 2 ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND not provided ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND Mucopolysaccharidosis, MPS-IV-B ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND GM1 gangliosidosis type 3 ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND Inborn genetic diseases ClinVar Detail
NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND GLB1-related disorder ClinVar 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
Here, we describe the first founder mutation leading to a lysosomal storage disorder in this populat... DisGeNET Detail
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Mo... DisGeNET Detail
Here, we describe the first founder mutation leading to a lysosomal storage disorder in this populat... 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
rs72555392 dbSNP
Genome
hg19
Position
chr3:33,114,105-33,114,105
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs72555392
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120758
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.140512429818314E-5
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