NM_000391.4(TPP1):c.1303C>G (p.His435Asp) AND Neuronal ceroid lipofuscinosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001833132.8
Allele description [Variation Report for NM_000391.4(TPP1):c.1303C>G (p.His435Asp)]
NM_000391.4(TPP1):c.1303C>G (p.His435Asp)
Condition(s)
-
RecName: Full=Ankyrin repeat domain-containing protein 60
RecName: Full=Ankyrin repeat domain-containing protein 60gi|158520015|sp|Q9BZ19.3|ANR60_HUMAProtein
-
Chromosome neighbors for GEO Profiles (Select 131476492) (20)
GEO Profiles
-
vacuolar protein-sorting-associated protein 25 [Homo sapiens]
vacuolar protein-sorting-associated protein 25 [Homo sapiens]gi|14150155|ref|NP_115729.1|Protein
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Last Updated: Oct 20, 2024