NM_000203.4(IDUA):c.1091C>T (p.Thr364Met) AND Mucopolysaccharidosis, MPS-I-H/S

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1997
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000012700.23

Allele description

NM_000203.4(IDUA):c.1091C>T (p.Thr364Met)

Gene:

IDUA:iduronidase, alpha-L- [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_000203.4(IDUA):c.1091C>T (p.Thr364Met)

HGVS:

NC_000004.12:g.1002387C>T
NG_008103.1:g.20391C>T
NM_000203.4:c.1091C>T
NP_000194.2:p.Thr364Met
NC_000004.11:g.996175C>T
NM_000203.3:c.1091C>T
NR_110313.1:n.1179C>T

Protein change:

T364M; THR364MET

Links:

OMIM: 252800.0018; dbSNP: rs121965032

NCBI 1000 Genomes Browser:

rs121965032

Molecular consequence:

NM_000203.4:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_110313.1:n.1179C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mucopolysaccharidosis, MPS-I-H/S
Synonyms:: MUCOPOLYSACCHARIDOSIS TYPE IH/S
Identifiers:: MedGen: C0086431; OMIM: 607015

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032935	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032935

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1997)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

Lee-Chen GJ, Wang TR.

J Med Genet. 1997 Nov;34(11):939-41.

PubMed [citation]

PMID:: 9391892
PMCID:: PMC1051126

Details of each submission

From OMIM, SCV000032935.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Lee-Chen and Wang (1997) identified homozygosity for a thr364-to-met (T364M) mutation in the IDUA gene product in a 10-year-old Chinese patient with the Hurler/Scheie syndrome (607015).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 4, 2016

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