NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Dec 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000758401.12
Allele description [Variation Report for NM_002693.3(POLG):c.3708G>T (p.Gln1236His)]
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
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
Assertion and evidence details
Last Updated: Jun 17, 2024