NC_000016.9:g.(?_80623263)_(81411221_?)delRat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV570660 (NC_000016.9:g.(?_80623263)_(81411221_?)del) Homo sapiens

Symbol: CV570660
Name: NC_000016.9:g.(?_80623263)_(81411221_?)del
RGD ID: 13819547
Condition: Giant axonal neuropathy 1 [RCV000708372]
Clinical Significance: pathogenic
Last Evaluated: 01/12/2018
Review Status: criteria provided, single submitter
Related Genes: ATMIN   BCO1   C16orf46   CDYL2   CENPN   CMC2   GAN   GCSH   PKD1L2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.9:g.(?_80623263)_(81411221_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh371680,623,263 - 81,411,221CLINVAR
Cytogenetic Map1616q23.2CLINVAR
Trait Synonyms: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000708372 CLINVAR
MedGen C1850386 CLINVAR
NCBI Gene ATMIN CLINVAR
  BCO1 CLINVAR
  C16orf46 CLINVAR
  CDYL2 CLINVAR
  CENPN CLINVAR
  CMC2 CLINVAR
  GAN CLINVAR
  GCSH CLINVAR
  PKD1L2 CLINVAR
OMIM 238330 CLINVAR
  256850 CLINVAR
  605379 CLINVAR
  605748 CLINVAR
  607894 CLINVAR
  611509 CLINVAR
  614693 CLINVAR
  618816 CLINVAR