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Term ID: | 20858 |
Name: | mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 |
Definition: | |
Alternative IDs: | 618120 |
ParentIDs: | |
TreeNumbers: | |
Synonyms: | MC5DN5; Mitochondrial Complex 5 (Atp Synthase) Deficiency, Atp5F1D Type; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5 |
Slim Mappings: | |
Reference: |
MedGen:
MeSH:
OMIM: 618120; MSeqDR : 00579; Genes: | 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 '%:618120%' OR t5.otherIDs like '%OMIM Allelic Variant:618120%' )
ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start; |