chr3:33038799:T>C Detail (hg19) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,038,799-33,038,799
hg38 chr3:32,997,307-32,997,307 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.1772A>G NP_000395.2:p.Tyr591Cys
NM_001317040.1:c.1772A>G NP_001303969.1:p.Tyr591Cys
NM_001135602.2:c.1379A>G NP_001129074.1:p.Tyr460Cys
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 Conflicting classifications of pathogenicity
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 COSM3945393 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-01-01 no assertion criteria provided GM1-gangliosidosis, type I, with cardiac involvement germline Detail
Uncertain significance 2018-03-07 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2 unknown Detail
Uncertain significance 2018-03-07 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2 unknown Detail
Uncertain significance 2018-03-07 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2 unknown Detail
Uncertain significance 2018-03-07 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2 unknown Detail
Pathogenic 2023-10-13 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Pathogenic 2023-10-13 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 congenital heart defects Interestingly, all patients with cardiac involvement were homozygous for one of ... BeFree 10737981 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
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND GM1-gangliosidosis, type I, with cardiac involvement ClinVar Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions ClinVar 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
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59... 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
rs72555371 dbSNP
Genome
hg19
Position
chr3:33,038,799-33,038,799
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8586
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)
119958
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.66725020423815E-5
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