NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) AND not provided

Clinical significance:Likely 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:
RCV000723454.1

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]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700424EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely 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 providedgermlineunknown3not 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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700424.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 8, 2021

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