chr3:33110341:C>T 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	chr3:33,110,341-33,110,341
hg38	chr3:33,068,849-33,068,849 View the variant detail on this assembly version.

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_001079811.2:c.277G>A	NP_001073279.1:p.Gly93Arg
	NM_001135602.2:c.246-3292G>A
	NM_000404.3:c.367G>A	NP_000395.2:p.Gly123Arg
	NM_001317040.1:c.367G>A	NP_001303969.1:p.Gly123Arg
Ensemble	ENST00000399402.7:c.277G>A	ENST00000399402.7:p.Gly93Arg
	ENST00000307377.12:c.246-3292G>A
	ENST00000307363.10:c.367G>A	ENST00000307363.10:p.Gly123Arg

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1991-08-01	no assertion criteria provided	Infantile GM1 gangliosidosis	germline	Detail
Pathogenic	2022-12-13	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-12-09	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2023-12-09	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Gangliosidosis, Generalized GM1, Type 1 (disorder)	NA	CLINVAR		Detail
0.362	Gangliosidosis, Generalized GM1, Type 1 (disorder)	The patient had compound heterozygous mutations of the GLB1 gene: c.13_14insA (p...	BeFree	22371915	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) AND Infantile GM1 gangliosidosis	ClinVar	Detail
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) AND not provided	ClinVar	Detail
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
The patient had compound heterozygous mutations of the GLB1 gene: c.13_14insA (p.L5HfsX29), which wa...	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: rs28934274 dbSNP
Genome: hg19
Position: chr3:33,110,341-33,110,341
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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