NM_002693.3(POLG):c.3346A>G (p.Met1116Val) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000552872.4
Allele description [Variation Report for NM_002693.3(POLG):c.3346A>G (p.Met1116Val)]
NM_002693.3(POLG):c.3346A>G (p.Met1116Val)
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
-
MCPH1-DT MCPH1 divergent transcript [Homo sapiens]
MCPH1-DT MCPH1 divergent transcript [Homo sapiens]Gene ID:100287015Gene
-
LOC100287015 AND (alive[prop]) (1)
Gene
-
F-box only protein 6-like isoform X2 [Esox lucius]
F-box only protein 6-like isoform X2 [Esox lucius]gi|1840308406|ref|XP_010869313.2|Protein
-
ATPAF1 AND (alive[prop]) (783)
Gene
-
PCED1A AND (alive[prop]) (275)
Gene
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024