NM_000202.8(IDS):c.389C>T (p.Thr130Ile) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jun 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000632181.9
Allele description [Variation Report for NM_000202.8(IDS):c.389C>T (p.Thr130Ile)]
NM_000202.8(IDS):c.389C>T (p.Thr130Ile)
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
-
ADP-ribosylation factor GTPase-activating protein 2 isoform X1 [Neophocaena asia...
ADP-ribosylation factor GTPase-activating protein 2 isoform X1 [Neophocaena asiaeorientalis asiaeorientalis]gi|1378857349|ref|XP_024604697.1|Protein
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ADP ribosylation factor GTPase activating protein 2 [Rousettus aegyptiacus]
ADP ribosylation factor GTPase activating protein 2 [Rousettus aegyptiacus]gi|1886678154|gb|KAF6463924.1||gnl| ACASE|cds.ARFGAP2_x7Protein
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Last Updated: Sep 29, 2024