NM_000202.8(IDS):c.880C>T (p.Arg294Trp) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002962292.1
Allele description [Variation Report for NM_000202.8(IDS):c.880C>T (p.Arg294Trp)]
NM_000202.8(IDS):c.880C>T (p.Arg294Trp)
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
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603064005F1 NIH_MGC_118 Homo sapiens cDNA clone IMAGE:5213257 5', mRNA sequence
603064005F1 NIH_MGC_118 Homo sapiens cDNA clone IMAGE:5213257 5', mRNA sequencegi|16175248|gnl|dbEST|9821238|gb|BI 6.1|Nucleotide
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HARS2 histidyl-tRNA synthetase 2, mitochondrial [Homo sapiens]
HARS2 histidyl-tRNA synthetase 2, mitochondrial [Homo sapiens]Gene ID:23438Gene
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Gene Links for OMIM (Select 600783) (1)
Gene
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SRA Links for BioSample (Select 14531465) (1)
SRA
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BioAssay, by Gene target for Gene (Select 286) (12)
PubChem BioAssay
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See more...Assertion and evidence details
Last Updated: Feb 13, 2023