chr3:33024321:T> Detail (hg38) (GLB1)

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

Information

Genome

Assembly	Position
hg19	chr3:33,065,813-33,065,813
hg38	chr3:33,024,321-33,024,321

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.1073delA	NP_000395.2:p.Val360TyrfsTer23
	NM_001317040.1:c.1073delA	NP_001303969.1:p.Val360TyrfsTer23
	NM_001135602.2:c.680delA	NP_001129074.1:p.Val229TyrfsTer23
	NM_001079811.2:c.983delA	NP_001073279.1:p.Val330TyrfsTer23
Ensemble	ENST00000307363.10:c.1073delA	ENST00000307363.10:p.Val360TyrfsTer23
	ENST00000307377.12:c.680delA	ENST00000307377.12:p.Val229TyrfsTer23
	ENST00000399402.7:c.983delA	ENST00000399402.7:p.Val330TyrfsTer23

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	2013-12-19	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-03-27	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail
Pathogenic	2023-03-27	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail
Pathogenic	2022-02-17	criteria provided, multiple submitters, no conflicts	Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Pathogenic	2022-09-30	criteria provided, multiple submitters, no conflicts	Infantile GM1 gangliosidosis	germline	Detail
Pathogenic	2020-05-21	criteria provided, single submitter	GM1 gangliosidosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.367	mucopolysaccharidosis type IVB	NA	CLINVAR		Detail
0.362	Gangliosidosis, Generalized GM1, Type 1 (disorder)	NA	CLINVAR		Detail
0.441	Gangliosidosis, Generalized GM1, Type 2	NA	CLINVAR		Detail
0.361	Gangliosidosis, Generalized GM1, Type 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000404.4(GLB1):c.1077del (p.Val360fs) AND not provided	ClinVar	Detail
NM_000404.4(GLB1):c.1077del (p.Val360fs) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1077del (p.Val360fs) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.1077del (p.Val360fs) AND Mucopolysaccharidosis, MPS-IV-B	ClinVar	Detail
NM_000404.4(GLB1):c.1077del (p.Val360fs) AND Infantile GM1 gangliosidosis	ClinVar	Detail
NM_000404.4(GLB1):c.1077del (p.Val360fs) AND GM1 gangliosidosis	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs727503952 dbSNP
Genome: hg38
Position: chr3:33,024,321-33,024,321
Variant Type: snv
Reference Allele: T
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 7512
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): 104790
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): 1.90857906288768E-5

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