NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003774299.1
Allele description [Variation Report for NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)]
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
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
-
Drosophila mojavensis
Drosophila mojavensisDrosophila mojavensis RefSeq Genome sequencing and assemblyBioProject
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BioProject Links for Nucleotide (Select 1814025998) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: May 1, 2024