chr3:33114036:G>A Detail (hg19) (GLB1)

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

Information

Genome

Assembly	Position
hg19	chr3:33,114,036-33,114,036
hg38	chr3:33,072,544-33,072,544 View the variant detail on this assembly version.

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.245C>T	NP_000395.2:p.Thr82Met
	NM_001317040.1:c.245C>T	NP_001303969.1:p.Thr82Met
	NM_001135602.2:c.245C>T	NP_001129074.1:p.Thr82Ile
	NM_001079811.2:c.155C>T	NP_001073279.1:p.Thr52Met
Ensemble	ENST00000307363.10:c.245C>T	ENST00000307363.10:p.Thr82Met
	ENST00000307377.12:c.245C>T	ENST00000307377.12:p.Thr82Ile
	ENST00000399402.7:c.155C>T	ENST00000399402.7:p.Thr52Met

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	Conflicting classifications of pathogenicity
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		criteria provided, single submitter	GM1 gangliosidosis type 3	germline	Detail
Pathogenic	2016-04-26	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely pathogenic	2017-08-30	criteria provided, single submitter	GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis	unknown	Detail
Likely pathogenic	2017-08-30	criteria provided, single submitter	GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis	unknown	Detail
Likely pathogenic	2017-08-30	criteria provided, single submitter	GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis	unknown	Detail
Likely pathogenic	2017-08-30	criteria provided, single submitter	GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis	unknown	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Uncertain significance	2019-01-01	criteria provided, single submitter	GM1 gangliosidosis type 2	unknown	Detail
Pathogenic	2021-10-25	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic		criteria provided, single submitter	Infantile GM1 gangliosidosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Gangliosidosis, Generalized GM1, Type 1 (disorder)	NA	CLINVAR		Detail
0.361	Gangliosidosis, Generalized GM1, Type 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND GM1 gangliosidosis type 3	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND Inborn genetic diseases	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND GM1 gangliosidosis type 2	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND not provided	ClinVar	Detail
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND Infantile GM1 gangliosidosis	ClinVar	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: rs72555393 dbSNP
Genome: hg19
Position: chr3:33,114,036-33,114,036
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8618
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120584
Allele Counts in All Race (ExAC): 9
Heterozygous Counts in All Race (ExAC): 9
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.463676773037882E-5

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