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Variant : CV535402 (NC_000001.11:g.(?_103175204)_(111410059_?)del) Homo sapiens

Symbol: CV535402
Name: NC_000001.11:g.(?_103175204)_(111410059_?)del
Condition: Autistic disorder of childhood onset [RCV000754122]
Clinical Significance: likely pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: AC095032.1   AHCYL1   AKNAD1   ALX3   AMIGO1   AMPD2   AMY1A   AMY1B   AMY1C   AMY2A   AMY2B   ATXN7L2   C1orf194   CD53   CELSR2   CEPT1   CHI3L2   CHIA   CLCC1   CSF1   CYB561D1   CYMP-AS1   DENND2D   DRAM2   ELAPOR1   EPS8L3   FAM102B   FNDC7   GNAI3   GNAT2   GPR61   GPSM2   GSTM1   GSTM2   GSTM3   GSTM4   GSTM5   HENMT1   KCNA10   KCNA2   KCNA3   KCNC4   LAMTOR5   LAMTOR5-AS1   LINC01397   LINC01661   LINC01676   LINC01677   LINC02586   LOC110121283   LOC110121285   LOC112577470   LOC112577471   LOC112577473   LOC112577475   LOC115801437   LOC115801438   LRIF1   MIR197   MIR7852   MYBPHL   NBPF4   NBPF6   NTNG1   PIFO   PRMT6   PROK1   PRPF38B   PSMA5   PSRC1   RBM15   RBM15-AS1   RNPC3   SARS1   SCARNA2   SLC16A4   SLC25A24   SLC6A17   SLC6A17-AS1   SORT1   SPATA42   STRIP1   STXBP3   SYPL2   TAF13   TMEM167B   UBL4B   VAV3   VAV3-AS1   WDR47  
Variant Type: deletion (SO:0000159)
Evidence: research
HGVS Name(s): NC_000001.11:g.(?_103175204)_(111410059_?)del
Human AssemblyChrPosition (strand)Source
GRCh381103,175,204 - 111,410,059CLINVAR
Cytogenetic Map11p21.1-13.2CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14351582
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE


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