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Variant : CV243739 (NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser)) Homo sapiens

Symbol: CV243739
Name: NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser)
Condition: Charcot-Marie-Tooth Neuropathy X [RCV000233284]
Clinical Significance: likely benign
Last Evaluated: 12/19/2015
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): NG_013217.1:g.21303A>G
NC_000023.11:g.130149531T>C
NC_000023.10:g.129283506T>C
NP_004199.1:p.Asn96Ser
NR_132647.1:n.375A>G
NM_145812.2:c.275A>G
NP_665811.1:p.Asn92Ser
NM_001130847.3:c.287A>G
NM_004208.4:c.287A>G
NM_004208.3:c.287A>G
NP_001124319.1:p.Asn96Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,149,531 - 130,149,531CLINVAR
GRCh37X129,283,506 - 129,283,506CLINVAR
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: 11347785
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2019-11-12
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.