chr4:1002747:G>A Detail (hg38) (IDUA)

Information

Genome

Assembly Position
hg19 chr4:996,535-996,535 View the variant detail on this assembly version.
hg38 chr4:1,002,747-1,002,747

HGVS

Type Transcript Protein
RefSeq NM_000203.4:c.1205G>A NP_000194.2:p.Trp402Ter
NR_110313.1:c.1205G>A
Ensemble ENST00000247933.9:c.1205G>A ENST00000247933.9:p.Trp402Ter
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 252800 OMIM
HGNC 5391 HGNC
Ensembl ENSG00000127415 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv324207102 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-02-13 criteria provided, multiple submitters, no conflicts Hurler syndrome germline unknown Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis type 1 germline Detail
Pathogenic 2021-12-29 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis, MPS-I-S,Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S germline unknown Detail
Pathogenic 2021-12-29 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis, MPS-I-S,Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S germline unknown Detail
Pathogenic 2021-12-29 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis, MPS-I-S,Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S germline unknown Detail
Pathogenic 2018-12-03 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis, MPS-I-H/S germline Detail
Pathogenic 2021-12-04 criteria provided, single submitter germline Detail
Pathogenic 2024-01-03 criteria provided, single submitter germline Detail
Pathogenic 2022-06-29 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-02-08 criteria provided, single submitter IDUA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.452 Pfaundler-Hurler Syndrome NA CLINVAR Detail
0.452 Pfaundler-Hurler Syndrome Previous studies in Caucasian populations showed that (1) homozygosity or compou... BeFree 8664897 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND Hurler syndrome ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND not provided ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND Mucopolysaccharidosis type 1 ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND multiple conditions ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND multiple conditions ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND multiple conditions ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND Mucopolysaccharidosis, MPS-I-H/S ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND Mucopolysacchariduria ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND See cases ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND Inborn genetic diseases ClinVar Detail
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND IDUA-related disorder ClinVar Detail
NA DisGeNET Detail
Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity fo... 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
rs121965019 dbSNP
Genome
hg38
Position
chr4:1,002,747-1,002,747
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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