NM_002693.3(POLG):c.3580A>G (p.Thr1194Ala) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001295679.7
Allele description [Variation Report for NM_002693.3(POLG):c.3580A>G (p.Thr1194Ala)]
NM_002693.3(POLG):c.3580A>G (p.Thr1194Ala)
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
-
Rattus norvegicus protein tyrosine phosphatase, receptor type, D (Ptprd), mRNA
Rattus norvegicus protein tyrosine phosphatase, receptor type, D (Ptprd), mRNAgi|9507010|ref|NM_019140.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024