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NM_000203.5(IDUA):c.1650+1G>A AND Hurler syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 24, 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:
RCV000669579.1

Allele description [Variation Report for NM_000203.5(IDUA):c.1650+1G>A]

NM_000203.5(IDUA):c.1650+1G>A

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.1650+1G>A
HGVS:
  • NC_000004.12:g.1003471G>A
  • NG_008103.1:g.21475G>A
  • NG_101700.1:g.360G>A
  • NM_000203.5:c.1650+1G>AMANE SELECT
  • NM_001363576.1:c.1254+1G>A
  • LRG_1277t1:c.1650+1G>A
  • LRG_1277:g.21475G>A
  • NC_000004.11:g.997259G>A
  • NM_000203.3:c.1650+1G>A
Links:
dbSNP: rs1434521185
NCBI 1000 Genomes Browser:
rs1434521185
Molecular consequence:
  • NM_000203.5:c.1650+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363576.1:c.1254+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000794346Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Sep 24, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000794346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024