NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000724295.1

Allele description [Variation Report for NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)]

NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)

Genes:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
HGVS:
  • NC_000004.12:g.987137T>C
  • NG_008103.1:g.5141T>C
  • NG_033042.1:g.11300A>G
  • NM_000203.5:c.53T>CMANE SELECT
  • NM_134425.3:c.576+3991A>G
  • NP_000194.2:p.Leu18Pro
  • LRG_1277t1:c.53T>C
  • LRG_1277:g.5141T>C
  • LRG_1277p1:p.Leu18Pro
  • NC_000004.11:g.980925T>C
  • NM_000203.3:c.53T>C
  • NM_000203.4(IDUA):c.53T>C
  • NR_110313.1:n.141T>C
  • P35475:p.Leu18Pro
Protein change:
L18P
Links:
UniProtKB: P35475#VAR_072367; dbSNP: rs794726878
NCBI 1000 Genomes Browser:
rs794726878
Molecular consequence:
  • NM_134425.3:c.576+3991A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000203.5:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.141T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700757EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Dec 22, 2016)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

Pasqualim G, Ribeiro MG, da Fonseca GG, Szlago M, Schenone A, Lemes A, Rojas MV, Matte U, Giugliani R.

Clin Genet. 2015 Oct;88(4):376-80. doi: 10.1111/cge.12507. Epub 2014 Oct 21.

PubMed [citation]
PMID:
25256405

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700757.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

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