chr3:33038803:G>A Detail (hg19) (GLB1)

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

Genome

Assembly	Position
hg19	chr3:33,038,803-33,038,803
hg38	chr3:32,997,311-32,997,311 View the variant detail on this assembly version.

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.1768C>T	NP_000395.2:p.Arg590Cys
	NM_001317040.1:c.1768C>T	NP_001303969.1:p.Arg590Cys
	NM_001135602.2:c.1375C>T	NP_001129074.1:p.Arg459Cys
	NM_001079811.2:c.1678C>T	NP_001073279.1:p.Arg560Cys
Ensemble	ENST00000307363.10:c.1768C>T	ENST00000307363.10:p.Arg590Cys
	ENST00000307377.12:c.1375C>T	ENST00000307377.12:p.Arg459Cys
	ENST00000399402.7:c.1678C>T	ENST00000399402.7:p.Arg560Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2017-09-01	criteria provided, multiple submitters, no conflicts	Infantile GM1 gangliosidosis	germline	Detail
Pathogenic	2014-06-25	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail
Pathogenic	2023-04-11	criteria provided, single submitter	GLB1-related disorder	biparental	Detail
Pathogenic	2023-09-20	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B	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
0.441	Gangliosidosis, Generalized GM1, Type 2	NA	CLINVAR		Detail
0.361	Gangliosidosis, Generalized GM1, Type 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) AND Infantile GM1 gangliosidosis	ClinVar	Detail
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) AND not provided	ClinVar	Detail
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) AND GLB1-related disorder	ClinVar	Detail
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) AND Mucopolysaccharidosis, MPS-IV-B	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: rs794727165 dbSNP
Genome: hg19
Position: chr3:33,038,803-33,038,803
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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