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Variant : CV534492 (NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)) Homo sapiens

Symbol: CV534492
Name: NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)
Condition: Charcot-Marie-Tooth Neuropathy X [RCV000654860]
Clinical Significance: benign
Last Evaluated: 11/03/2017
Review Status: criteria provided, single submitter
Related Genes: AIFM1   RAB33A  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_145812.2:c.1215T>G
NM_004208.4:c.1227T>G
NM_001130846.3:c.210T>G
NR_132647.1:n.1518T>G
NG_013217.1:g.34711T>G
NC_000023.11:g.130136123A>C
NC_000023.10:g.129270098A>C
NP_004199.1:p.Thr409=
NM_001130847.3:c.*455T>G
NM_004208.3:c.1227T>G
NP_665811.1:p.Thr405=
NP_001124318.2:p.Thr70=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,136,123 - 130,136,123CLINVAR
GRCh37X129,270,098 - 129,270,098CLINVAR
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: 13626466
Created: 2018-06-12
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.