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Variant : CV44232 (NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del)) Homo sapiens

Symbol: CV44232
Name: NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del)
Condition: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029221]
Clinical Significance: pathogenic
Last Evaluated: 09/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SERAC1  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: literature only
HGVS Name(s): NP_116250.3:p.Leu479del
NM_032861.4:c.1432_1434CTT[1]
NG_032889.1:g.57027_57029CTT[1]
NC_000006.12:g.158116249_158116251AAG[1]
NC_000006.11:g.158537281_158537283AAG[1]
NM_032861.3:c.1435_1437del
NR_073096.1:n.1365_1367CTT[1]
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,116,249 - 158,116,251CLINVAR
GRCh376158,537,281 - 158,537,283CLINVAR
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



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8569131
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.