chr3:32997307:T>C 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	chr3:33,038,799-33,038,799 View the variant detail on this assembly version.
hg38	chr3:32,997,307-32,997,307

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.1772A>G	NP_000395.2:p.Tyr591Cys
	NM_001317040.1:c.1772A>G	NP_001303969.1:p.Tyr591Cys
	NM_001135602.2:c.1379A>G	NP_001129074.1:p.Tyr460Cys
	NM_001079811.2:c.1682A>G	NP_001073279.1:p.Tyr561Cys
Ensemble	ENST00000307363.10:c.1772A>G	ENST00000307363.10:p.Tyr591Cys
	ENST00000307377.12:c.1379A>G	ENST00000307377.12:p.Tyr460Cys
	ENST00000399402.7:c.1682A>G	ENST00000399402.7:p.Tyr561Cys

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	COSM3945393	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-01-01	no assertion criteria provided	GM1-gangliosidosis, type I, with cardiac involvement	germline	Detail
Uncertain significance	2018-03-07	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2	unknown	Detail
Uncertain significance	2018-03-07	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2	unknown	Detail
Uncertain significance	2018-03-07	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2	unknown	Detail
Uncertain significance	2018-03-07	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,Infantile GM1 gangliosidosis,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2	unknown	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	congenital heart defects	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail
<0.001	congenital heart defects	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail
<0.001	Cardiomyopathies	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail
<0.001	Cardiomyopathies	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND GM1-gangliosidosis, type I, with cardiac involvement	ClinVar	Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) AND multiple conditions	ClinVar	Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	DisGeNET	Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	DisGeNET	Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	DisGeNET	Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	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: rs72555371 dbSNP
Genome: hg38
Position: chr3:32,997,307-32,997,307
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8586
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): 119958
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.66725020423815E-5

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