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NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) AND Hurler syndrome

Germline classification:
Likely pathogenic (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:
RCV000670254.1

Allele description [Variation Report for NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)]

NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)

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.623G>A (p.Gly208Asp)
HGVS:
  • NC_000004.12:g.1001712G>A
  • NG_008103.1:g.19716G>A
  • NM_000203.5:c.623G>AMANE SELECT
  • NM_001363576.1:c.227G>A
  • NP_000194.2:p.Gly208Asp
  • NP_001350505.1:p.Gly76Asp
  • LRG_1277t1:c.623G>A
  • LRG_1277:g.19716G>A
  • LRG_1277p1:p.Gly208Asp
  • NC_000004.11:g.995500G>A
  • NM_000203.3:c.623G>A
  • NM_000203.4:c.623G>A
  • NR_110313.1:n.711G>A
Protein change:
G208D
Links:
dbSNP: rs1430681871
NCBI 1000 Genomes Browser:
rs1430681871
Molecular consequence:
  • NM_000203.5:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.711G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795087Counsyl
criteria provided, single submitter

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

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

Wang X, Zhang W, Shi H, Qiu Z, Meng Y, Yao F, Wei M.

Clin Genet. 2012 May;81(5):443-52. doi: 10.1111/j.1399-0004.2011.01680.x. Epub 2011 May 16. Erratum in: Clin Genet. 2012 May;81(5):501.

PubMed [citation]
PMID:
21480867

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ.

Mol Genet Metab. 2003 Jan;78(1):37-43.

PubMed [citation]
PMID:
12559846
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000795087.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024