NM_002693.3(POLG):c.3366G>A (p.Glu1122=) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003863156.2
Allele description [Variation Report for NM_002693.3(POLG):c.3366G>A (p.Glu1122=)]
NM_002693.3(POLG):c.3366G>A (p.Glu1122=)
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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Microbe sample from Escovopsis weberi
Microbe sample from Escovopsis weberibiosample
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Microbe sample from Escovopsis moelleri
Microbe sample from Escovopsis moelleribiosample
-
Fungus from colony LK170123-01
Fungus from colony LK170123-01biosample
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Cephus cinctus mitochondrion, complete genome
Cephus cinctus mitochondrion, complete genomegi|237515443|ref|NC_012688.1|Nucleotide
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KIRREL1 [Ornithorhynchus anatinus]
KIRREL1 [Ornithorhynchus anatinus]Gene ID:100090784Gene
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Last Updated: Sep 29, 2024