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NM_000203.5(IDUA):c.386-2A>G AND Hurler syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000666721.1

Allele description [Variation Report for NM_000203.5(IDUA):c.386-2A>G]

NM_000203.5(IDUA):c.386-2A>G

Gene:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.386-2A>G
HGVS:
  • NC_000004.12:g.1000880A>G
  • NG_008103.1:g.18884A>G
  • NM_000203.4(IDUA):c.386-2A>G
  • NM_000203.5:c.386-2A>GMANE SELECT
  • NM_001363576.1:c.-11-2A>G
  • LRG_1277t1:c.386-2A>G
  • LRG_1277:g.18884A>G
  • NC_000004.11:g.994668A>G
  • NM_000203.3:c.386-2A>G
  • NM_000203.4(IDUA):c.386-2A>G
  • NM_000203.4:c.386-2A>G
  • NM_000203.5:c.386-2A>G
Links:
dbSNP: rs777295041
NCBI 1000 Genomes Browser:
rs777295041
Molecular consequence:
  • NM_000203.5:c.386-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363576.1:c.-11-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hurler syndrome
Synonyms:
MUCOPOLYSACCHARIDOSIS TYPE IH; Gargoylism, Hurler Syndrome
Identifiers:
MONDO: MONDO:0011758; MedGen: C0086795; OMIM: 607014

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791067Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Pathogenic
(Apr 20, 2017) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Kingma SD, Langereis EJ, de Klerk CM, Zoetekouw L, Wagemans T, IJlst L, Wanders RJ, Wijburg FA, van Vlies N.

Orphanet J Rare Dis. 2013 Jul 9;8:99. doi: 10.1186/1750-1172-8-99.

PubMed [citation]
PMID:
23837464
PMCID:
PMC3710214

Details of each submission

From Counsyl, SCV000791067.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024