NM_000202.8(IDS):c.388A>G (p.Thr130Ala) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003622535.2
Allele description [Variation Report for NM_000202.8(IDS):c.388A>G (p.Thr130Ala)]
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
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
-
AGR123Cp [Eremothecium gossypii ATCC 10895]
AGR123Cp [Eremothecium gossypii ATCC 10895]gi|45201219|ref|NP_986789.1|Protein
-
Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA
Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNAgi|13994371|ref|NM_031964.1|Nucleotide
-
tgfb2 [Pseudoliparis swirei]
tgfb2 [Pseudoliparis swirei]Gene ID:130206475Gene
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Last Updated: Sep 29, 2024