NM_001386393.1(PANK2):c.8G>T (p.Gly3Val) AND Pigmentary pallidal degeneration
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001317637.7
Allele description [Variation Report for NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)]
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)
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
-
LOC105374433 [Homo sapiens]
LOC105374433 [Homo sapiens]Gene ID:105374433Gene
-
LOC105371970 [Homo sapiens]
LOC105371970 [Homo sapiens]Gene ID:105371970Gene
-
Fulvia fulva uncharacterized protein (CLAFUR5_01008), partial mRNA
Fulvia fulva uncharacterized protein (CLAFUR5_01008), partial mRNAgi|2234809199|ref|XM_047900156.1|Nucleotide
-
Fulvia fulva HBS1-like protein (CLAFUR5_00960), partial mRNA
Fulvia fulva HBS1-like protein (CLAFUR5_00960), partial mRNAgi|2234808995|ref|XM_047900108.1|Nucleotide
-
Fulvia fulva uncharacterized protein (CLAFUR5_01052), partial mRNA
Fulvia fulva uncharacterized protein (CLAFUR5_01052), partial mRNAgi|2234809420|ref|XM_047900200.1|Nucleotide
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Last Updated: Sep 29, 2024