NM_002693.3(POLG):c.2199C>T (p.His733=) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003628522.2
Allele description [Variation Report for NM_002693.3(POLG):c.2199C>T (p.His733=)]
NM_002693.3(POLG):c.2199C>T (p.His733=)
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
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cytochrome c oxidase subunit I, partial (mitochondrion) [Metapenaeopsis barbata]
cytochrome c oxidase subunit I, partial (mitochondrion) [Metapenaeopsis barbata]gi|2505710799|gb|WHI92785.1|Protein
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|7019917|dbj|BAA90924.1|Protein
-
Homologene neighbors for GEO Profiles (Select 104547162) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 104537620) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 43767074) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024