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Variant : CV39694 (MFN2, EX7-8DEL) Homo sapiens

Symbol: CV39694
Name: MFN2, EX7-8DEL
Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B [RCV000023715]|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE [RCV000023715]|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B [RCV000023715]|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b [RCV000023715]|Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessive [RCV000023715]|Charcot-Marie-Tooth disease, axonal, type 2a2, autosomal recessive [RCV000023715]
Clinical Significance: pathogenic
Last Evaluated: 06/12/2015
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: MFN2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: ex7-8del
Evidence: literature only|research
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map11p36.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8568551
Created: 2014-05-13
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.