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Variant : CV556615 (NM_014874.3(MFN2):c.638T>C (p.Ile213Thr)) Homo sapiens

Symbol: CV556615
Name: NM_014874.3(MFN2):c.638T>C (p.Ile213Thr)
Condition: Charcot-Marie-Tooth disease [RCV000789396]|Charcot-Marie-Tooth disease, type 2 [RCV000697709]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 02/23/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_255t1:c.638T>C
LRG_255:g.23628T>C
NG_007945.1:g.23628T>C
NM_014874.3:c.638T>C
NP_055689.1:p.Ile213Thr
NC_000001.11:g.11998808T>C
NC_000001.10:g.12058865T>C
LRG_255p1:p.Ile213Thr
NM_001127660.1:c.638T>C
NP_001121132.1:p.Ile213Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,998,808 - 11,998,808CLINVAR
GRCh37112,058,865 - 12,058,865CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13801270
Created: 2018-11-06
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.