chr3:33110383:G>A 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	chr3:33,110,383-33,110,383
hg38	chr3:33,068,891-33,068,891 View the variant detail on this assembly version.

HGVS

GLB1

Type	Transcript	Protein
RefSeq	NM_000404.3:c.325C>T	NP_000395.2:p.Arg109Trp
	NM_001317040.1:c.325C>T	NP_001303969.1:p.Arg109Trp
	NM_001135602.2:c.246-3334C>T
	NM_001079811.2:c.235C>T	NP_001073279.1:p.Arg79Trp
Ensemble	ENST00000307363.10:c.325C>T	ENST00000307363.10:p.Arg109Trp
	ENST00000307377.12:c.246-3334C>T
	ENST00000399402.7:c.235C>T	ENST00000399402.7:p.Arg79Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:<0.001
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Benign Likely benign
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	tgv11983156	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2015-05-22	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	GM1 gangliosidosis	germline	Detail
Benign	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Benign	2024-01-31	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail
Benign	2024-01-31	criteria provided, single submitter	Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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.325C>T (p.Arg109Trp) AND not specified	ClinVar	Detail
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) AND Mucopolysaccharidosis, MPS-IV-B	ClinVar	Detail
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) AND GM1 gangliosidosis	ClinVar	Detail
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) AND not provided	ClinVar	Detail
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) AND multiple conditions	ClinVar	Detail
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) AND multiple conditions	ClinVar	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: rs35289681 dbSNP
Genome: hg19
Position: chr3:33,110,383-33,110,383
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Filtering Status (HGVD): PASS
# of samples (HGVD): 1210
Mean of sample read depth (HGVD): 203.98
Standard deviation of sample read depth (HGVD): 85.64
Number of reference allele (HGVD): 2419
Number of alternative allele (HGVD): 1
Allele Frequency (HGVD): 4.1322314049586776E-4
Gene Symbol (HGVD): GLB1
East Asian Chromosome Counts (ExAC): 8626
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): 120768
Allele Counts in All Race (ExAC): 2216
Heterozygous Counts in All Race (ExAC): 2138
Homozygous Counts in All Race (ExAC): 39
Allele Frequency in All Race (ExAC): 0.018349231584525703

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