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Variant : CV649671 (NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly)) Homo sapiens

Symbol: CV649671
Name: NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly)
Condition: Charcot-Marie-Tooth Neuropathy X [RCV000800712]
Clinical Significance: uncertain significance
Last Evaluated: 09/07/2018
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
Evidence: clinical testing
HGVS Name(s): NM_001130847.3:c.*822A>G
NM_145812.2:c.1582A>G
NM_004208.4:c.1594A>G
NM_001130846.3:c.577A>G
NG_013217.1:g.40688A>G
NC_000023.11:g.130130146T>C
NC_000023.10:g.129264121T>C
NR_132647.1:n.1885A>G
NM_004208.3:c.1594A>G
NP_001124318.2:p.Ser193Gly
NP_665811.1:p.Ser528Gly
NP_004199.1:p.Ser532Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,130,146 - 130,130,146CLINVAR
GRCh37X129,264,121 - 129,264,121CLINVAR
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: 14729862
Created: 2019-09-06
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.