NM_002693.3(POLG):c.2165G>A (p.Arg722His) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001510028.7
Allele description [Variation Report for NM_002693.3(POLG):c.2165G>A (p.Arg722His)]
NM_002693.3(POLG):c.2165G>A (p.Arg722His)
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
-
ectonucleotide pyrophosphatase/phosphodiesterase 6 (predicted), isoform CRA_b [R...
ectonucleotide pyrophosphatase/phosphodiesterase 6 (predicted), isoform CRA_b [Rattus norvegicus]gi|149021436|gb|EDL78899.1||gnl|WGS |rCP13409Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024