NM_002693.3(POLG):c.659+11G>T AND Progressive sclerosing poliodystrophy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000758403.7
Allele description [Variation Report for NM_002693.3(POLG):c.659+11G>T]
NM_002693.3(POLG):c.659+11G>T
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
-
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndromeMedGen
-
C1832472[conceptid] (1)
MedGen
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multidrug resistance-associated protein 4 [Kryptolebias marmoratus]
multidrug resistance-associated protein 4 [Kryptolebias marmoratus]gi|1041128076|ref|XP_017288290.1|Protein
-
lipoate--protein ligase [Limosilactobacillus reuteri]
lipoate--protein ligase [Limosilactobacillus reuteri]gi|489771178|ref|WP_003675087.1|Protein
-
ubiquitin-conjugating enzyme E2 E3 isoform X1 [Balaenoptera acutorostrata]
ubiquitin-conjugating enzyme E2 E3 isoform X1 [Balaenoptera acutorostrata]gi|2526701247|ref|XP_057407793.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024