chr4:996121:T>G Detail (hg19) (IDUA)

Information

Genome

Assembly Position
hg19 chr4:996,121-996,121
hg38 chr4:1,002,333-1,002,333 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000203.4:c.1037T>G NP_000194.2:p.Leu346Arg
NR_110313.1:c.1037T>G
Ensemble ENST00000247933.9:c.1037T>G ENST00000247933.9:p.Leu346Arg
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 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-12-01 no assertion criteria provided Mucopolysaccharidosis, MPS-I-H/S germline Detail
Pathogenic 2017-11-02 criteria provided, single submitter Hurler syndrome germline unknown Detail
Pathogenic 2024-01-02 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.452 Pfaundler-Hurler Syndrome NA CLINVAR Detail
0.441 Hurler-Scheie Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) AND Mucopolysaccharidosis, MPS-I-H/S ClinVar Detail
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) AND Hurler syndrome ClinVar Detail
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) AND Mucopolysaccharidosis type 1 ClinVar Detail
NA 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
rs121965033 dbSNP
Genome
hg19
Position
chr4:996,121-996,121
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8368
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1950286806883365E-4
Chromosome Counts in All Race (ExAC)
113598
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.802971883307805E-6
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