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NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 11, 2024
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:
RCV003987813.1

Allele description [Variation Report for NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)]

NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)

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.494G>A (p.Gly165Asp)
HGVS:
  • NC_000004.12:g.1001468G>A
  • NG_008103.1:g.19472G>A
  • NM_000203.5:c.494G>AMANE SELECT
  • NM_001363576.1:c.98G>A
  • NP_000194.2:p.Gly165Asp
  • NP_001350505.1:p.Gly33Asp
  • LRG_1277t1:c.494G>A
  • LRG_1277:g.19472G>A
  • LRG_1277p1:p.Gly165Asp
  • NC_000004.11:g.995256G>A
  • NC_000004.11:g.995256G>A
  • NM_000203.3:c.494G>A
  • NM_000203.4:c.494G>A
  • NR_110313.1:n.582G>A
Protein change:
G165D
Links:
dbSNP: rs150763745
NCBI 1000 Genomes Browser:
rs150763745
Molecular consequence:
  • NM_000203.5:c.494G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.582G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004804390Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Jan 11, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004804390.1

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

Last Updated: Sep 29, 2024