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Term ID: | 13547 |
Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 3 |
Definition: | Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. |
Alternative IDs: | 614053 |
ParentIDs: | |
TreeNumbers: | |
Synonyms: | ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency; MC5DN3; mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type; mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3; mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; mitochondrial comple |
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Reference: |
MedGen:
MeSH:
OMIM: 614053; MSeqDR : 00025; Genes: ATP5E; | Could not execute query 3 SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar
FROM gb_exome.clinvar_variation_v2_latest as t5
WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:614053%' OR t5.otherIDs like '%OMIM Allelic Variant:614053%' )
ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start; |