NM_001386393.1(PANK2):c.39G>A (p.Arg13=) AND Pigmentary pallidal degeneration
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002539397.9
Allele description [Variation Report for NM_001386393.1(PANK2):c.39G>A (p.Arg13=)]
NM_001386393.1(PANK2):c.39G>A (p.Arg13=)
Condition(s)
- Name:
- Pigmentary pallidal degeneration (NBIA1)
- Synonyms:
- PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET; Pantothenate kinase-associated neurodegeneration; Neuroaxonal dystrophy, late infantile; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009319; MedGen: C0018523; Orphanet: 157850; OMIM: 234200
-
Chain X, Sm-D1
Chain X, Sm-D1gi|315583602|pdb|3PGW|XProtein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024