Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV626759 (NM_014874.3(MFN2):c.1480C>A (p.Gln494Lys)) Homo sapiens

Symbol: CV626759
Name: NM_014874.3(MFN2):c.1480C>A (p.Gln494Lys)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000820789]
Clinical Significance: uncertain significance
Last Evaluated: 11/07/2018
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_014874.3:c.1480C>A
LRG_255t1:c.1480C>A
NM_001127660.1:c.1480C>A
LRG_255:g.29732C>A
NG_007945.1:g.29732C>A
NC_000001.11:g.12004912C>A
NC_000001.10:g.12064969C>A
LRG_255p1:p.Gln494Lys
NP_001121132.1:p.Gln494Lys
NP_055689.1:p.Gln494Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,004,912 - 12,004,912CLINVAR
GRCh37112,064,969 - 12,064,969CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14738129
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.