NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002622485.5
Allele description [Variation Report for NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)]
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)
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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NISC_ng01a04.y1 NICHD_XGC_Emb6 Xenopus tropicalis cDNA clone IMAGE:5382030 5', m...
NISC_ng01a04.y1 NICHD_XGC_Emb6 Xenopus tropicalis cDNA clone IMAGE:5382030 5', mRNA sequencegi|21080765|gnl|dbEST|12437903|gb|B 78.1|Nucleotide
-
JGI_CAAK424.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7652195 5',...
JGI_CAAK424.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7652195 5', mRNA sequencegi|58369052|gnl|dbEST|27506640|gb|C 25.1|Nucleotide
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Last Updated: Sep 29, 2024