NM_002693.3(POLG):c.460G>A (p.Ala154Thr) AND Mitochondrial DNA depletion syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000661980.11
Allele description [Variation Report for NM_002693.3(POLG):c.460G>A (p.Ala154Thr)]
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)
Condition(s)
- Name:
- Mitochondrial DNA depletion syndrome 1
- Synonyms:
- POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011283; MedGen: C4551995; Orphanet: 298; OMIM: 603041
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Chain D, Cryo-EM structure of Thogoto virus polymerase in transcription pre-init...
Chain D, Cryo-EM structure of Thogoto virus polymerase in transcription pre-initiation conformation 2gi|2737424060|pdb|8Z8J|DNucleotide
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Chain B, RNA-directed RNA polymerase catalytic subunit
Chain B, RNA-directed RNA polymerase catalytic subunitgi|2737424058|pdb|8Z8J|BProtein
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Last Updated: Oct 13, 2024