NM_002693.3(POLG):c.855G>C (p.Gln285His) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000758410.6
Allele description [Variation Report for NM_002693.3(POLG):c.855G>C (p.Gln285His)]
NM_002693.3(POLG):c.855G>C (p.Gln285His)
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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FAS-associated factor 1 isoform 2 [Mus musculus]
FAS-associated factor 1 isoform 2 [Mus musculus]gi|2464172844|ref|NP_001405706.1|Protein
-
hypothetical protein TR102464 [Schistocephalus solidus]
hypothetical protein TR102464 [Schistocephalus solidus]gi|974176108|gb|JAP44342.1||gnl|TSA |ssol_TR102464_c0_g1_i1_1Protein
-
NADH dehydrogenase subunit 1, partial (mitochondrion) [Schistocephalus solidus]
NADH dehydrogenase subunit 1, partial (mitochondrion) [Schistocephalus solidus]gi|2747363740|gb|XCA58742.1|Protein
-
Miconia psbK-psbI intergenic spacer, partial sequence; chloroplast.
Miconia psbK-psbI intergenic spacer, partial sequence; chloroplast.PopSet: 732556191PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024