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Variant : CV125792 (NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)) Homo sapiens

Symbol: CV125792
Name: NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
Condition: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000106307]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SERAC1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense|non-coding transcript variant
Evidence: literature only
HGVS Name(s): NG_032889.1:g.22765C>T
NC_000006.12:g.158150516G>A
NC_000006.11:g.158571548G>A
NP_116250.3:p.Arg68Ter
NM_032861.4:c.202C>T
NM_032861.3:c.202C>T
NR_073096.1:n.344C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,150,516 - 158,150,516CLINVAR
GRCh376158,571,548 - 158,571,548CLINVAR
Cytogenetic Map66q25.3CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8591070
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.