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Variant : CV624888 (NM_014874.3(MFN2):c.193G>T (p.Glu65Ter)) Homo sapiens

Symbol: CV624888
Name: NM_014874.3(MFN2):c.193G>T (p.Glu65Ter)
Condition: Charcot-Marie-Tooth disease [RCV000790046]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NP_001121132.1:p.Glu65Ter
NC_000001.10:g.12052629G>T
NP_055689.1:p.Glu65Ter
NM_014874.3:c.193G>T
LRG_255t1:c.193G>T
NG_007945.1:g.17392G>T
NC_000001.11:g.11992572G>T
NM_001127660.1:c.193G>T
LRG_255:g.17392G>T
LRG_255p1:p.Glu65Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,992,572 - 11,992,572CLINVAR
GRCh37112,052,629 - 12,052,629CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14700305
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-12-03
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.