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Variant : CV348459 (NM_004208.4(AIFM1):c.606-15C>T) Homo sapiens

Symbol: CV348459
Name: NM_004208.4(AIFM1):c.606-15C>T
Condition: Combined oxidative phosphorylation deficiency [RCV000263434]|not specified [RCV000435122]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: AIFM1   RAB33A  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_013217.1:g.25250C>T
NC_000023.11:g.130145584G>A
NC_000023.10:g.129279559G>A
NM_145812.2:c.594-15C>T
NM_001130847.3:c.606-15C>T
NM_004208.4:c.606-15C>T
NM_004208.3:c.606-15C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,145,584 - 130,145,584CLINVAR
GRCh37X129,279,559 - 129,279,559CLINVAR
Cytogenetic MapXXq26.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11626451
Created: 2017-01-11
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.