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Variant : CV626746 (NM_014874.3(MFN2):c.650G>T (p.Cys217Phe)) Homo sapiens

Symbol: CV626746
Name: NM_014874.3(MFN2):c.650G>T (p.Cys217Phe)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000821854]
Clinical Significance: uncertain significance
Last Evaluated: 10/05/2018
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.650G>T
LRG_255t1:c.650G>T
NM_001127660.1:c.650G>T
LRG_255:g.23640G>T
NG_007945.1:g.23640G>T
NC_000001.11:g.11998820G>T
NC_000001.10:g.12058877G>T
LRG_255p1:p.Cys217Phe
NP_001121132.1:p.Cys217Phe
NP_055689.1:p.Cys217Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,998,820 - 11,998,820CLINVAR
GRCh37112,058,877 - 12,058,877CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14740560
Created: 2019-09-06
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.