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Variant : CV44230 (SERAC1, IVS13DS, G-C, +1) Homo sapiens

Symbol: CV44230
Name: SERAC1, IVS13DS, G-C, +1
Condition: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029219]
Clinical Significance: pathogenic
Last Evaluated: 09/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SERAC1  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Nucleotide Change: ivs13ds, g-c, +1
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map66q25.3CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VI
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8569129
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-12-05
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.