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Variant : CV563212 (NC_000009.11:g.(?_34458984)_(36277059_?)dup) Homo sapiens

Symbol: CV563212
Name: NC_000009.11:g.(?_34458984)_(36277059_?)dup
Condition: Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492]
Clinical Significance: uncertain significance
Last Evaluated: 06/18/2018
Review Status: criteria provided, single submitter
Related Genes: ARHGEF39   ARID3C   C9orf131   CA9   CCDC107   CCIN   CCL19   CCL21   CCL27   CD72   CLTA   CNTFR   CREB3   DCTN3   DNAI1   DNAJB5   ENHO   FAM166B   FAM205A   FAM214B   FAM221B   FANCG   GALT   GBA2   GLIPR2   GNE   HINT2   HRCT1   IL11RA   MSMP   NPR2   OR13J1   OR2S2   PHF24   PIGO   RECK   RGP1   RMRP   RPP25L   RUSC2   SIGMAR1   SIT1   SPAG8   STOML2   TESK1   TLN1   TMEM8B   TPM2   UNC13B   VCP  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_34458984)_(36277059_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh37934,458,984 - 36,277,059CLINVAR
Cytogenetic Map99p13.3CLINVAR
Trait Synonyms: Amyotrophic lateral sclerosis 16, juvenile; NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13819676
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-01-07
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.