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Variant : CV535418 (NC_000001.11:g.(?_204033173)_(208209798_?)del) Homo sapiens

Symbol: CV535418
Name: NC_000001.11:g.(?_204033173)_(208209798_?)del
Condition: Autistic disorder of childhood onset [RCV000754138]
Clinical Significance: likely pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: AVPR1B   BLACAT1   C1orf116   C4BPA   C4BPB   CD34   CD46   CD55   CDK18   CNTN2   CR1   CR1L   CR2   CTSE   DSTYK   DYRK3   DYRK3-AS1   EIF2D   ELK4   ERLNC1   ETNK2   FAM72A   FCAMR   FCMR   GOLT1A   IKBKE   IL10   IL19   IL20   IL24   KISS1   KLHDC8A   LEMD1   LEMD1-AS1   LEMD1-DT   LINC00303   LINC00628   LINC02767   LOC284581   LRRN2   MAPKAPK2   MDM4   MFSD4A   MFSD4A-AS1   MIR135B   MIR29B2   MIR29B2CHG   MIR29C   MIR6769B   NFASC   NUAK2   NUCKS1   PFKFB2   PIGR   PIK3C2B   PLEKHA6   PLXNA2   PM20D1   PPP1R15B   RAB29   RAB7B   RASSF5   RBBP5   REN   RHEX   SLC26A9   SLC26A9-AS1   SLC41A1   SLC45A3   SOX13   SRGAP2   TMCC2   TMCC2-AS1   TMEM81   TRK-TTT3-1   TRK-TTT3-2   TRK-TTT8-1   YOD1  
Variant Type: deletion (SO:0000159)
Evidence: research
HGVS Name(s): NC_000001.11:g.(?_204033173)_(208209798_?)del
Human AssemblyChrPosition (strand)Source
GRCh381204,033,173 - 208,209,798CLINVAR
Cytogenetic Map11q32.1-32.2CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14351628
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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