NM_002693.3(POLG):c.1032C>A (p.Ser344=) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003514206.1
Allele description [Variation Report for NM_002693.3(POLG):c.1032C>A (p.Ser344=)]
NM_002693.3(POLG):c.1032C>A (p.Ser344=)
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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Links from autonomous proteins to species level organisms for Pro... (2)
Links from autonomous proteins to species level organisms for Protein (Select 2532407933)SearchTaxonomy
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protein phosphatase 1 regulatory subunit 3C [Homo sapiens]
protein phosphatase 1 regulatory subunit 3C [Homo sapiens]gi|4885559|ref|NP_005389.1|Protein
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Taxonomy Links for Gene (Select 5507) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: May 12, 2024