chr3:33018510:G>A Detail (hg38) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,060,002-33,060,002 View the variant detail on this assembly version.
hg38 chr3:33,018,510-33,018,510

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser
NM_001317040.1:c.1285C>T NP_001303969.1:p.Pro429Ser
NM_001135602.2:c.892C>T NP_001129074.1:p.Pro298Ser
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 Conflicting classifications of pathogenicity
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 tgv317359244 TogoVar
COSMIC COSM1197369 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2016-05-13 no assertion criteria provided Mucopolysaccharidosis, MPS-IV-B germline Detail
Likely benign 2024-01-24 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Likely benign 2024-01-24 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Uncertain significance 2018-03-05 criteria provided, single submitter Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3 unknown Detail
Uncertain significance 2018-03-05 criteria provided, single submitter Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3 unknown Detail
Uncertain significance 2018-03-05 criteria provided, single submitter Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3 unknown Detail
Uncertain significance 2018-03-05 criteria provided, single submitter Infantile GM1 gangliosidosis,GM1 gangliosidosis type 2,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3 unknown Detail
Uncertain significance 2022-02-25 criteria provided, single submitter not provided 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_000404.2(GLB1):c.[1285C>T;1097C>A] AND Mucopolysaccharidosis, MPS-IV-B ClinVar Detail
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) AND not provided 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
rs797045010 dbSNP
Genome
hg38
Position
chr3:33,018,510-33,018,510
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
120770
Allele Counts in All Race (ExAC)
30
Heterozygous Counts in All Race (ExAC)
30
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4840606110789105E-4
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