NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) AND Hurler syndrome

Clinical significance:Uncertain significance (Last evaluated: Dec 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000597524.2

Allele description [Variation Report for NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)]

NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)

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.1163C>A (p.Thr388Lys)
HGVS:
  • NC_000004.12:g.1002459C>A
  • NG_008103.1:g.20463C>A
  • NM_000203.5:c.1163C>AMANE SELECT
  • NM_001363576.1:c.767C>A
  • NP_000194.2:p.Thr388Lys
  • NP_001350505.1:p.Thr256Lys
  • LRG_1277t1:c.1163C>A
  • LRG_1277:g.20463C>A
  • LRG_1277p1:p.Thr388Lys
  • NC_000004.11:g.996247C>A
  • NM_000203.3:c.1163C>A
  • NM_000203.4(IDUA):c.1163C>A
  • NR_110313.1:n.1251C>A
  • p.Thr388Lys
Protein change:
T256K
Links:
dbSNP: rs794727896
NCBI 1000 Genomes Browser:
rs794727896
Molecular consequence:
  • NM_000203.5:c.1163C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.767C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.1251C>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796074Counsylcriteria provided, single submitter
Uncertain significance
(Dec 7, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

Kwak MJ, Huh R, Kim J, Park HD, Cho SY, Jin DK.

BMC Med Genet. 2016 Aug 12;17(1):58. doi: 10.1186/s12881-016-0319-x.

PubMed [citation]
PMID:
27520059
PMCID:
PMC4983032

Details of each submission

From Counsyl, SCV000796074.1

#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: Oct 7, 2021

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