chr3:33014263:C>A Detail (hg38) (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	chr3:33,055,755-33,055,755 View the variant detail on this assembly version.
hg38	chr3:33,014,263-33,014,263

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.1527G>T	NP_000395.2:p.Trp509Cys
	NM_001317040.1:c.1527G>T	NP_001303969.1:p.Trp509Cys
	NM_001135602.2:c.1134G>T	NP_001129074.1:p.Trp378Cys
	NM_001079811.2:c.1437G>T	NP_001073279.1:p.Trp479Cys
Ensemble	ENST00000307363.10:c.1527G>T	ENST00000307363.10:p.Trp509Cys
	ENST00000307377.12:c.1134G>T	ENST00000307377.12:p.Trp378Cys
	ENST00000399402.7:c.1437G>T	ENST00000399402.7:p.Trp479Cys

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	1991-11-01	no assertion criteria provided	Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2022-12-06	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail
Pathogenic	2022-12-06	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	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

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) AND Mucopolysaccharidosis, MPS-IV-B	ClinVar	Detail
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) 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

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: rs72555363 dbSNP
Genome: hg38
Position: chr3:33,014,263-33,014,263
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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