NM_080916.3(DGUOK):c.708-3T>C AND Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000311088.6
Allele description [Variation Report for NM_080916.3(DGUOK):c.708-3T>C]
NM_080916.3(DGUOK):c.708-3T>C
Condition(s)
- Name:
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- Synonyms:
- Mitochondrial DNA-depletion syndrome 3, hepatocerebral; Mitochondrial DNA depletion syndrome 3; Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Identifiers:
- MONDO: MONDO:0009636; MedGen: C5191055; Orphanet: 279934; OMIM: 251880
-
eggc.vipvHD (0)
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Last Updated: May 12, 2024