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Variant : CV515092 (NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del)) Homo sapiens

Symbol: CV515092
Name: NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000653886]
Clinical Significance: uncertain significance
Last Evaluated: 01/03/2018
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: clinical testing
HGVS Name(s): NM_014874.3:c.1306_1308GAG[1]
NM_014874.3:c.1309_1311delGAG
NC_000001.10:g.12064584_12064586GAG[1]
NM_001127660.1:c.1306_1308GAG[1]
LRG_255:g.29347_29349GAG[1]
NG_007945.1:g.29347_29349GAG[1]
NC_000001.11:g.12004527_12004529GAG[1]
LRG_255p1:p.Glu437del
NP_055689.1:p.Glu437del
LRG_255t1:c.1309_1311del
NP_001121132.1:p.Glu437del
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,004,530 - 12,004,532CLINVAR
GRCh37112,064,587 - 12,064,589CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13625737
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-11-05
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.