NM_015713.5(RRM2B):c.*73A>T AND Mitochondrial DNA depletion syndrome 8a
- 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:
- RCV000373054.5
Allele description [Variation Report for NM_015713.5(RRM2B):c.*73A>T]
NM_015713.5(RRM2B):c.*73A>T
Condition(s)
- Name:
- Mitochondrial DNA depletion syndrome 8a
- Synonyms:
- MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE; Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
- Identifiers:
- MONDO: MONDO:0012792; MedGen: C2749861; OMIM: 612075
-
actin-related protein 2/3 complex subunit 2 [Homo sapiens]
actin-related protein 2/3 complex subunit 2 [Homo sapiens]gi|5031599|ref|NP_005722.1|Protein
-
PGAP1 [Ovis aries]
PGAP1 [Ovis aries]Gene ID:101120808Gene
-
TCEAL6 transcription elongation factor A like 6 [Homo sapiens]
TCEAL6 transcription elongation factor A like 6 [Homo sapiens]Gene ID:158931Gene
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023