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Variant : CV558627 (NC_000002.11:g.(?_219135239)_(220290732_?)del) Homo sapiens

Symbol: CV558627
Name: NC_000002.11:g.(?_219135239)_(220290732_?)del
Condition: Myofibrillar myopathy 1 [RCV000707774]
Clinical Significance: pathogenic
Last Evaluated: 04/20/2018
Review Status: criteria provided, single submitter
Related Genes: ABCB6   ANKZF1   ATG9A   BCS1L   CATIP   CDK5R2   CFAP65   CNOT9   CNPPD1   CRYBA2   CTDSP1   CYP27A1   DES   DNAJB2   DNPEP   FEV   GLB1L   IHH   MIR26B   MIR375   NHEJ1   PLCD4   PNKD   PRKAG3   PTPRN   RESP18   RETREG2   RNF25   SLC11A1   SLC23A3   STK16   STK36   TMBIM1   TTLL4   TUBA4A   USP37   VIL1   WNT10A   WNT6   ZFAND2B   ZNF142  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000002.11:g.(?_219135239)_(220290732_?)del
Human AssemblyChrPosition (strand)Source
GRCh372219,135,239 - 220,290,732CLINVAR
Cytogenetic Map22q35CLINVAR
Trait Synonyms: Desmin related myopathy (former name); Desmin storage myopathy (former name); DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; Desminopathy; Dilated cardiomyopathy 1F; Muscular dystrophy, limb-girdle, type 2R; MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13818587
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


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