chr3:33055784:T>C Detail (hg19) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,055,784-33,055,784
hg38 chr3:33,014,292-33,014,292 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.1498A>G NP_000395.2:p.Thr500Ala
NM_001317040.1:c.1498A>G NP_001303969.1:p.Thr500Ala
NM_001135602.2:c.1105A>G NP_001129074.1:p.Thr369Ala
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 Likely pathogenic
Review star
Show details
Links
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 2001-08-01 no assertion criteria provided Mucopolysaccharidosis, MPS-IV-B germline Detail
Likely pathogenic 2018-03-21 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B unknown Detail
Likely pathogenic 2018-03-21 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B unknown Detail
Likely pathogenic 2018-03-21 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B unknown Detail
Likely pathogenic 2018-03-21 criteria provided, single submitter GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B unknown Detail
Pathogenic 2024-01-08 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Pathogenic 2024-01-08 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Pathogenic 2021-07-08 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-08-25 criteria provided, single submitter GM1 gangliosidosis germline Detail
Pathogenic 2022-10-17 criteria provided, single submitter GM1 gangliosidosis type 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.367 mucopolysaccharidosis type IVB NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND Mucopolysaccharidosis, MPS-IV-B ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND not provided ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND GM1 gangliosidosis type 3 ClinVar 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
rs72555368 dbSNP
Genome
hg19
Position
chr3:33,055,784-33,055,784
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8216
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)
115712
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.642146017699115E-6
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