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Variant : CV584196 (NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)) Homo sapiens

Symbol: CV584196
Name: NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
Condition: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000802903]|not provided [RCV000728088]
Clinical Significance: uncertain significance
Last Evaluated: 11/08/2018
Review Status: criteria provided, single submitter
Related Genes: SERAC1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_032861.3:c.674A>G
NR_073096.1:n.816A>G
NG_032889.1:g.30161A>G
NC_000006.12:g.158143120T>C
NP_116250.3:p.Glu225Gly
NC_000006.11:g.158564152T>C
NM_032861.4:c.674A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,143,120 - 158,143,120CLINVAR
GRCh376158,564,152 - 158,564,152CLINVAR
Cytogenetic Map66q25.3CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13832969
Created: 2019-01-08
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.