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Variant : CV649674 (NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)) Homo sapiens

Symbol: CV649674
Name: NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)
Condition: Charcot-Marie-Tooth Neuropathy X [RCV000811082]
Clinical Significance: uncertain significance
Last Evaluated: 10/29/2018
Review Status: criteria provided, single submitter
Related Genes: AIFM1   RAB33A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_145812.2:c.881G>A
NM_001130847.3:c.893G>A
NM_004208.4:c.893G>A
NG_013217.1:g.32167G>A
NC_000023.11:g.130138667C>T
NC_000023.10:g.129272642C>T
NR_132647.1:n.981G>A
NM_004208.3:c.893G>A
NP_665811.1:p.Arg294Gln
NP_001124319.1:p.Arg298Gln
NP_004199.1:p.Arg298Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,138,667 - 130,138,667CLINVAR
GRCh37X129,272,642 - 129,272,642CLINVAR
Cytogenetic MapXXq26.1CLINVAR
Trait Synonyms: Combined oxidative phosphorylation deficiency; Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14715005
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-05
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.