NM_000202.8(IDS):c.419-3A>G AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621995.2
Allele description [Variation Report for NM_000202.8(IDS):c.419-3A>G]
NM_000202.8(IDS):c.419-3A>G
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
-
Rattus norvegicus thioredoxin 2 (Txn2), mRNA; nuclear gene for mitochondrial pro...
Rattus norvegicus thioredoxin 2 (Txn2), mRNA; nuclear gene for mitochondrial productgi|148747134|ref|NM_053331.2|Nucleotide
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Last Updated: Sep 29, 2024