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Variant : CV535509 (Single allele) Homo sapiens

Symbol: CV535509
Name: Single allele
Condition: Autistic disorder of childhood onset [RCV000754229]
Clinical Significance: likely pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: AATBC   ADARB1   AGPAT3   AIRE   C21orf58   CFAP410   COL18A1   COL18A1-AS1   COL18A1-AS2   COL6A1   COL6A2   CSTB   DIP2A   DIP2A-IT1   DNMT3L   DNMT3L-AS1   FAM207A   FTCD   FTCD-AS1   GATD3A   H2BS1   HSF2BP   ICOSLG   ITGB2   ITGB2-AS1   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LINC00163   LINC00205   LINC00313   LINC00316   LINC00319   LINC00334   LINC01424   LINC01547   LINC01678   LINC01694   LINC02575   LOC101928796   LOC108251799   LOC108254685   LOC108281139   LOC108281151   LOC109029533   LOC112694750   LOC112694751   LOC112694752   LOC112694753   LOC112694754   LOC116309124   LOC116309125   LRRC3   LRRC3-DT   LSS   MCM3AP   MCM3AP-AS1   MIR6070   MIR6815   PCBP3   PCBP3-AS1   PCNT   PDXK   PFKL   PICSAR   POFUT2   PRMT2   PTTG1IP   PWP2   RRP1   RRP1B   S100B   SIK1   SLC19A1   SNORD159   SPATC1L   SUMO3   TRAPPC10   TRPM2   TRPM2-AS   TSPEAR   TSPEAR-AS1   TSPEAR-AS2   UBE2G2   YBEY  
Variant Type: duplication (SO:1000035)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh382143,403,441 - 46,673,937CLINVAR
Cytogenetic Map2121q22.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14351503
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE


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