chr3:33058235:C>T Detail (hg19) (GLB1)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

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

HGVS

GLB1

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
	NM_001079811.2:c.1355G>A	NP_001073279.1:p.Arg452His
Ensemble	ENST00000307363.10:c.1445G>A	ENST00000307363.10:p.Arg482His
	ENST00000307377.12:c.1052G>A	ENST00000307377.12:p.Arg351His
	ENST00000399402.7:c.1355G>A	ENST00000399402.7:p.Arg452His

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

GLB1

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

Descrption	Source	Links
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: hg19
Position: chr3:33,058,235-33,058,235
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