chr3:33055755:C>A Detail (hg19) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,055,755-33,055,755
hg38 chr3:33,014,263-33,014,263 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.1527G>T NP_000395.2:p.Trp509Cys
NM_001317040.1:c.1527G>T NP_001303969.1:p.Trp509Cys
NM_001135602.2:c.1134G>T NP_001129074.1:p.Trp378Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 1991-11-01 no assertion criteria provided Mucopolysaccharidosis, MPS-IV-B germline Detail
Pathogenic 2022-12-06 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis germline Detail
Pathogenic 2022-12-06 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.367 mucopolysaccharidosis type IVB Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.126 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.003 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.001 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.567 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.001 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.004 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.367 mucopolysaccharidosis type IVB NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) AND Mucopolysaccharidosis, MPS-IV-B ClinVar Detail
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) AND multiple conditions ClinVar Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... 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
rs72555363 dbSNP
Genome
hg19
Position
chr3:33,055,755-33,055,755
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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