NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) AND Pigmentary pallidal degeneration
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000826147.8
Allele description [Variation Report for NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)]
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)
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
-
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Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 6 (CACNG6), transcript variant 1, mRNAgi|1862723009|ref|NM_145814.2|Nucleotide
-
Fejervarya kupitzi voucher CAS 210276 small subunit ribosomal RNA gene, partial ...
Fejervarya kupitzi voucher CAS 210276 small subunit ribosomal RNA gene, partial sequence; mitochondrialgi|1590714907|gb|MK621384.1|Nucleotide
-
spike glycoprotein [Pipistrellus bat coronavirus HKU5]
spike glycoprotein [Pipistrellus bat coronavirus HKU5]gi|520688503|gb|AGP04932.1|Protein
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Last Updated: Oct 8, 2024