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Variant : CV404439 (NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu)) Homo sapiens

Symbol: CV404439
Name: NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu)
Condition: Charcot-Marie-Tooth Neuropathy X [RCV000467856]
Clinical Significance: uncertain significance
Last Evaluated: 10/01/2018
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|missense variant
Evidence: clinical testing
HGVS Name(s): NG_013217.1:g.40737C>T
NC_000023.11:g.130130097G>A
NC_000023.10:g.129264072G>A
NP_004199.1:p.Pro548Leu
NM_145812.2:c.1631C>T
NM_001130846.3:c.626C>T
NR_132647.1:n.1934C>T
NM_004208.3:c.1643C>T
NP_001124318.2:p.Pro209Leu
NP_665811.1:p.Pro544Leu
NM_001130847.3:c.*871C>T
NM_004208.4:c.1643C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,130,097 - 130,130,097CLINVAR
GRCh37X129,264,072 - 129,264,072CLINVAR
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: 12886774
Created: 2017-05-09
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.