NM_002693.3(POLG):c.1837C>G (p.His613Asp) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002917155.3
Allele description [Variation Report for NM_002693.3(POLG):c.1837C>G (p.His613Asp)]
NM_002693.3(POLG):c.1837C>G (p.His613Asp)
Condition(s)
- Name:
- Progressive sclerosing poliodystrophy (MTDPS4A)
- Synonyms:
- Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008758; MedGen: C0205710; Orphanet: 726; OMIM: 203700
-
Potassium Acetate
Potassium AcetateA potassium salt used to replenish ELECTROLYTES, for restoration of WATER-ELECTROLYTE BALANCE, as well as a urinary and systemic alkalizer, which can be administered orally or...<br/>Year introduced: 1997MeSH
-
D019347 (1)
MeSH
-
chitotriosidase-1 isoform 1 precursor [Mus musculus]
chitotriosidase-1 isoform 1 precursor [Mus musculus]gi|58037265|ref|NP_082255.1|Protein
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Last Updated: Sep 29, 2024