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NM_000203.5(IDUA):c.1727+4C>T AND Hurler syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 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:
RCV000670259.1

Allele description [Variation Report for NM_000203.5(IDUA):c.1727+4C>T]

NM_000203.5(IDUA):c.1727+4C>T

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.1727+4C>T
HGVS:
  • NC_000004.12:g.1003629C>T
  • NG_008103.1:g.21633C>T
  • NM_000203.5:c.1727+4C>TMANE SELECT
  • NM_001363576.1:c.1331+4C>T
  • LRG_1277t1:c.1727+4C>T
  • LRG_1277:g.21633C>T
  • NC_000004.11:g.997417C>T
  • NM_000203.3:c.1727+4C>T
  • NR_110313.1:n.1819C>T
Links:
dbSNP: rs1202966289
NCBI 1000 Genomes Browser:
rs1202966289
Molecular consequence:
  • NM_000203.5:c.1727+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363576.1:c.1331+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110313.1:n.1819C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795092Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Oct 26, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, et al.

Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10.

PubMed [citation]
PMID:
21394825

Details of each submission

From Counsyl, SCV000795092.1

#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: Jul 15, 2024