NC_000009.11:g.(?_34458984)_(36277059_?)dupRat Genome Database
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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
RGD ID: 13819676
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; Hereditary motor neuropathy, Jerash type; Motor neuropathy, distal, Jerash type; NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; Spinal muscular atrophy, Jerash type



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000708492 CLINVAR
MedGen C1854023 CLINVAR
NCBI Gene ARHGEF39 CLINVAR
  ARID3C CLINVAR
  C9orf131 CLINVAR
  CA9 CLINVAR
  CCDC107 CLINVAR
  CCIN CLINVAR
  CCL19 CLINVAR
  CCL21 CLINVAR
  CCL27 CLINVAR
  CD72 CLINVAR
  CLTA CLINVAR
  CNTFR CLINVAR
  CREB3 CLINVAR
  DCTN3 CLINVAR
  DNAI1 CLINVAR
  DNAJB5 CLINVAR
  ENHO CLINVAR
  FAM166B CLINVAR
  FAM205A CLINVAR
  FAM214B CLINVAR
  FAM221B CLINVAR
  FANCG CLINVAR
  GALT CLINVAR
  GBA2 CLINVAR
  GLIPR2 CLINVAR
  GNE CLINVAR
  HINT2 CLINVAR
  HRCT1 CLINVAR
  IL11RA CLINVAR
  MSMP CLINVAR
  NPR2 CLINVAR
  OR13J1 CLINVAR
  OR2S2 CLINVAR
  PHF24 CLINVAR
  PIGO CLINVAR
  RECK CLINVAR
  RGP1 CLINVAR
  RMRP CLINVAR
  RPP25L CLINVAR
  RUSC2 CLINVAR
  SIGMAR1 CLINVAR
  SIT1 CLINVAR
  SPAG8 CLINVAR
  STOML2 CLINVAR
  TESK1 CLINVAR
  TLN1 CLINVAR
  TMEM8B CLINVAR
  TPM2 CLINVAR
  UNC13B CLINVAR
  VCP CLINVAR
OMIM 107272 CLINVAR
  108961 CLINVAR
  118946 CLINVAR
  118960 CLINVAR
  157660 CLINVAR
  186745 CLINVAR
  190990 CLINVAR
  600939 CLINVAR
  601023 CLINVAR
  601782 CLINVAR
  601978 CLINVAR
  602227 CLINVAR
  602737 CLINVAR
  602956 CLINVAR
  603179 CLINVAR
  603824 CLINVAR
  603960 CLINVAR
  604366 CLINVAR
  604833 CLINVAR
  604964 CLINVAR
  605227 CLINVAR
  605726 CLINVAR
  605731 CLINVAR
  605836 CLINVAR
  606443 CLINVAR
  606999 CLINVAR
  607141 CLINVAR
  607387 CLINVAR
  608292 CLINVAR
  609471 CLINVAR
  609997 CLINVAR
  611053 CLINVAR
  611328 CLINVAR
  612191 CLINVAR
  614373 CLINVAR
  614730 CLINVAR
  615742 CLINVAR
  616888 CLINVAR
  618556 CLINVAR