chr3:33093471:C>A Detail (hg19) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,093,471-33,093,471
hg38 chr3:33,051,979-33,051,979 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.818G>T NP_000395.2:p.Trp273Leu
NM_001317040.1:c.818G>T NP_001303969.1:p.Trp273Leu
NM_001135602.2:c.425G>T NP_001129074.1:p.Trp142Leu
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 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
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
0.367 mucopolysaccharidosis type IVB Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: thr... BeFree 11511921 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu) AND Mucopolysaccharidosis, MPS-IV-B 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
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutat... 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
rs72555362 dbSNP
Genome
hg19
Position
chr3:33,093,471-33,093,471
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8616
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)
120710
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9705906718581727E-5
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