chr3:33016818:C>T 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	chr3:33,058,310-33,058,310 View the variant detail on this assembly version.
hg38	chr3:33,016,818-33,016,818

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.1370G>A	NP_000395.2:p.Arg457Gln
	NM_001317040.1:c.1370G>A	NP_001303969.1:p.Arg457Gln
	NM_001135602.2:c.977G>A	NP_001129074.1:p.Arg326Gln
	NM_001079811.2:c.1280G>A	NP_001073279.1:p.Arg427Gln
Ensemble	ENST00000307363.10:c.1370G>A	ENST00000307363.10:p.Arg457Gln
	ENST00000307377.12:c.977G>A	ENST00000307377.12:p.Arg326Gln
	ENST00000399402.7:c.1280G>A	ENST00000399402.7:p.Arg427Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	tgv317359181	TogoVar
	COSMIC	COSM5444068	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1991-08-01	no assertion criteria provided	GM1 gangliosidosis type 3	germline	Detail
Pathogenic	2022-11-07	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2022-11-07	criteria provided, single submitter	GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Likely pathogenic	2021-11-16	criteria provided, single submitter	GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis	unknown	Detail
Likely pathogenic	2021-11-16	criteria provided, single submitter	GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis	unknown	Detail
Likely pathogenic	2021-11-16	criteria provided, single submitter	GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis	unknown	Detail
Pathogenic	2022-08-16	criteria provided, single submitter	GM1 gangliosidosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	Gangliosidosis, Generalized GM1, Type 3	NA	CLINVAR		Detail
0.149	Gangliosidosis GM1	The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosid...	BeFree	1353343	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) AND GM1 gangliosidosis type 3	ClinVar	Detail
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) AND GM1 gangliosidosis	ClinVar	Detail
NA	DisGeNET	Detail
The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosidase activity, wherea...	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: rs28934886 dbSNP
Genome: hg38
Position: chr3:33,016,818-33,016,818
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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