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Variant : CV538931 (NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter)) Homo sapiens

Symbol: CV538931
Name: NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter)
Condition: Leigh syndrome [RCV000735814]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 01/07/2019
Review Status: criteria provided, single submitter
Related Genes: TIMMDC1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: research
HGVS Name(s): NC_000003.11:g.119236128C>T
NP_057673.2:p.Arg225Ter
NC_000003.12:g.119517281C>T
NM_016589.4:c.673C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh383119,517,281 - 119,517,281CLINVAR
GRCh373119,236,128 - 119,236,128CLINVAR
Cytogenetic Map33q13.33CLINVAR
Trait Synonyms: Leigh Disease; Leigh's disease; Leigh's syndrome



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14350391
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-02-11
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.