NM_017866.6(TMEM70):c.*29G>A AND Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000304395.5
Allele description [Variation Report for NM_017866.6(TMEM70):c.*29G>A]
NM_017866.6(TMEM70):c.*29G>A
Condition(s)
- Name:
- Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
- Synonyms:
- ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013546; MedGen: C3279699; Orphanet: 1194; OMIM: 614052
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Rattus norvegicus strain mixed contig_15402.1, whole genome shotgun sequence
Rattus norvegicus strain mixed contig_15402.1, whole genome shotgun sequencegi|661418501|gb|AABR07015002.1||gnl AABR07|contig_15402.1Nucleotide
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Pentatricopeptide repeat (PPR) superfamily protein [Arabidopsis thaliana]
Pentatricopeptide repeat (PPR) superfamily protein [Arabidopsis thaliana]gi|15234831|ref|NP_194799.1|Protein
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acetyl-CoA acetyltransferase [Geobacillus sp. GHH01]
acetyl-CoA acetyltransferase [Geobacillus sp. GHH01]gi|445208517|gnl|goetting|GHH_c3492 AGE23982.1|Protein
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AU128958 NT2RP2 Homo sapiens cDNA clone NT2RP2004553 5', mRNA sequence
AU128958 NT2RP2 Homo sapiens cDNA clone NT2RP2004553 5', mRNA sequencegi|10989312|gnl|dbEST|6557732|dbj|A 58.1|Nucleotide
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HG535_0E03330 [Zygotorulaspora mrakii]
HG535_0E03330 [Zygotorulaspora mrakii]Gene ID:59236991Gene
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Last Updated: Apr 9, 2023