NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000558287.9
Allele description [Variation Report for NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)]
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)
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
-
tight junction protein ZO-2-like isoform X1 [Cottoperca gobio]
tight junction protein ZO-2-like isoform X1 [Cottoperca gobio]gi|1678717777|ref|XP_029300421.1|Protein
-
ribose ABC transporter [Paraburkholderia acidiphila]
ribose ABC transporter [Paraburkholderia acidiphila]gi|1787165844|gnl|PRJNA534068|FAZ97 0|gb|QGZ59861.1|Protein
-
ST47ORF013 [Staphylococcus phage 47]
ST47ORF013 [Staphylococcus phage 47]Gene ID:5133055Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024