chr4:998093:A>G Detail (hg19) (IDUA)

Information

Genome

Assembly Position
hg19 chr4:998,093-998,093
hg38 chr4:1,004,305-1,004,305 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000203.4:c.1874A>G NP_000194.2:p.Tyr625Cys
NR_110313.1:c.1874A>G
Ensemble ENST00000247933.9:c.1874A>G ENST00000247933.9:p.Tyr625Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 252800 OMIM
HGNC 5391 HGNC
Ensembl ENSG00000127415 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 no assertion criteria provided Hurler syndrome inherited Detail
Likely pathogenic 2022-04-14 criteria provided, single submitter Mucopolysaccharidosis type 1 germline Detail
Uncertain significance 2020-09-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.452 Pfaundler-Hurler Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) AND Hurler syndrome ClinVar Detail
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) AND Mucopolysaccharidosis type 1 ClinVar Detail
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) 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
rs587779401 dbSNP
Genome
hg19
Position
chr4:998,093-998,093
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser