NM_000391.4(TPP1):c.*1634T>C AND Neuronal ceroid lipofuscinosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000308532.5
Allele description [Variation Report for NM_000391.4(TPP1):c.*1634T>C]
NM_000391.4(TPP1):c.*1634T>C
Condition(s)
-
Klebsiella pneumoniae strain 4300STDY6636952 genome assembly, contig: ERS1470111...
Klebsiella pneumoniae strain 4300STDY6636952 genome assembly, contig: ERS1470111SCcontig000051, whole genome shotgun sequencegi|1429520288|emb|UFBH01000051.1|Nucleotide
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Homo sapiens dynamin 1 pseudogene 46 (DNM1P46), non-coding RNA
Homo sapiens dynamin 1 pseudogene 46 (DNM1P46), non-coding RNAgi|2198214397|ref|NR_003260.2|Nucleotide
-
RecName: Full=Transcription factor MafK; AltName: Full=Erythroid transcription f...
RecName: Full=Transcription factor MafK; AltName: Full=Erythroid transcription factor NF-E2 p18 subunitgi|13124320|sp|O60675.1|MAFK_HUMANProtein
-
Chain A, GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE
Chain A, GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASEgi|10120777|pdb|1DC6|AProtein
-
National Practitioner Data Bank
National Practitioner Data BankA databank established by the Health Care Quality Improvement Act of 1986 authorizing the Department of Health and Human Services to collect and release information on the pro...<br/>Year introduced: 1992MeSH
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Last Updated: Feb 4, 2024