chr3:33038800:A>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	chr3:33,038,800-33,038,800
hg38	chr3:32,997,308-32,997,308 View the variant detail on this assembly version.

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.1771T>A	NP_000395.2:p.Tyr591Asn
	NM_001317040.1:c.1771T>A	NP_001303969.1:p.Tyr591Asn
	NM_001135602.2:c.1378T>A	NP_001129074.1:p.Tyr460Asn
	NM_001079811.2:c.1681T>A	NP_001073279.1:p.Tyr561Asn
Ensemble	ENST00000307363.10:c.1771T>A	ENST00000307363.10:p.Tyr591Asn
	ENST00000307377.12:c.1378T>A	ENST00000307377.12:p.Tyr460Asn
	ENST00000399402.7:c.1681T>A	ENST00000399402.7:p.Tyr561Asn

Summary

MGeND

Clinical significance
Variant entry
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

[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

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.1771T>A (p.Tyr591Asn) AND GM1-gangliosidosis, type I, with cardiac involvement	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: rs72555373 dbSNP
Genome: hg19
Position: chr3:33,038,800-33,038,800
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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