U.S. flag

An official website of the United States government

NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) AND Mucopolysaccharidosis, MPS-II

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001291028.1

Allele description [Variation Report for NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)]

NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)

Gene:
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)
HGVS:
  • NC_000023.11:g.149482907TA[3]
  • NG_011900.3:g.27425TA[3]
  • NM_000202.8:c.1491_1492dupMANE SELECT
  • NM_001166550.4:c.1221_1222dup
  • NP_000193.1:p.Arg498fs
  • NP_001160022.1:p.Arg408fs
  • NC_000023.10:g.148564438TA[3]
  • NC_000023.11:g.149482909_149482910dupTA
Protein change:
R408fs
Links:
dbSNP: rs2089304532
NCBI 1000 Genomes Browser:
rs2089304532
Molecular consequence:
  • NM_000202.8:c.1491_1492dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001166550.4:c.1221_1222dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-II (MPS2)
Synonyms:
Mucopolysaccharidosis type II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450631Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001450631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022