NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) AND Hurler syndrome

Clinical significance:Benign (Last evaluated: May 18, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526424.1

Allele description [Variation Report for NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)]

NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)

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.1081G>A (p.Ala361Thr)
HGVS:
  • NC_000004.12:g.1002377G>A
  • NG_008103.1:g.20381G>A
  • NM_000203.5:c.1081G>AMANE SELECT
  • NM_001363576.1:c.685G>A
  • NP_000194.2:p.Ala361Thr
  • NP_000194.2:p.Ala361Thr
  • NP_000194.2:p.Ala361Thr
  • NP_001350505.1:p.Ala229Thr
  • LRG_1277t1:c.1081G>A
  • LRG_1277:g.20381G>A
  • LRG_1277p1:p.Ala361Thr
  • NC_000004.11:g.996165G>A
  • NM_000203.3:c.1081G>A
  • NM_000203.4:c.1081G>A
  • NR_110313.1:n.1169G>A
  • P35475:p.Ala361Thr
Protein change:
A229T
Links:
UniProtKB: P35475#VAR_003364; dbSNP: rs6831280
NCBI 1000 Genomes Browser:
rs6831280
Molecular consequence:
  • NM_000203.5:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.1169G>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
SCV001736788Pars Genome Labcriteria provided, single submitter
Benign
(May 18, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Pars Genome Lab, SCV001736788.1

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

Last Updated: Oct 16, 2021

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