chr3:33072618:G>C Detail (hg38) (GLB1)

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

Information

Genome

Assembly	Position
hg19	chr3:33,114,110-33,114,110 View the variant detail on this assembly version.
hg38	chr3:33,072,618-33,072,618

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.171C>G	NP_000395.2:p.Tyr57Ter
	NM_001317040.1:c.171C>G	NP_001303969.1:p.Tyr57Ter
	NM_001135602.2:c.171C>G	NP_001129074.1:p.Tyr57Ter
	NM_001079811.2:c.81C>G	NP_001073279.1:p.Tyr27Ter
Ensemble	ENST00000307363.10:c.171C>G	ENST00000307363.10:p.Tyr57Ter
	ENST00000307377.12:c.171C>G	ENST00000307377.12:p.Tyr57Ter
	ENST00000399402.7:c.81C>G	ENST00000399402.7:p.Tyr27Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
Likely pathogenic	2017-12-18	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2	unknown	Detail
Likely pathogenic	2017-12-18	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2	unknown	Detail
Likely pathogenic	2017-12-18	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2	unknown	Detail
Likely pathogenic	2017-12-18	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2	unknown	Detail
Pathogenic	2021-08-03	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-05-15	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2022-05-15	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2024-01-30	criteria provided, single submitter	GM1 gangliosidosis	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.171C>G (p.Tyr57Ter) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) AND not provided	ClinVar	Detail
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) AND GM1 gangliosidosis	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: rs398123350 dbSNP
Genome: hg38
Position: chr3:33,072,618-33,072,618
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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