chr3:33114079: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	chr3:33,114,079-33,114,079
hg38	chr3:33,072,587-33,072,587 View the variant detail on this assembly version.

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.202C>T	NP_000395.2:p.Arg68Trp
	NM_001317040.1:c.202C>T	NP_001303969.1:p.Arg68Trp
	NM_001135602.2:c.202C>T	NP_001129074.1:p.Arg68Trp
	NM_001079811.2:c.112C>T	NP_001073279.1:p.Arg38Trp
Ensemble	ENST00000307363.10:c.202C>T	ENST00000307363.10:p.Arg68Trp
	ENST00000307377.12:c.202C>T	ENST00000307377.12:p.Arg68Trp
	ENST00000399402.7:c.112C>T	ENST00000399402.7:p.Arg38Trp

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	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
Pathogenic	2003-07-01	no assertion criteria provided	GM1 gangliosidosis type 2	germline	Detail
Pathogenic	2017-08-29	criteria provided, single submitter	Infantile GM1 gangliosidosis	germline	Detail
Pathogenic	2023-08-11	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail
Pathogenic	2023-08-11	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Gangliosidosis, Generalized GM1, Type 2	NA	CLINVAR		Detail
0.362	Gangliosidosis, Generalized GM1, Type 1 (disorder)	A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbou...	BeFree	21497194	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) AND GM1 gangliosidosis type 2	ClinVar	Detail
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) AND Infantile GM1 gangliosidosis	ClinVar	Detail
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic var...	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: rs72555370 dbSNP
Genome: hg19
Position: chr3:33,114,079-33,114,079
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8624
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): 120742
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.312848884398138E-5

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