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Variant : CV623768 (Single allele) Homo sapiens

Symbol: CV623768
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787461]
Clinical Significance: uncertain significance
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   BRK1   BRPF1   CAMK1   CIDEC   CPNE9   CRELD1   EMC3   FANCD2   FANCD2OS   GHRL   GHRLOS   HRH1   IL17RC   IL17RE   IRAK2   JAGN1   LHFPL4   MTMR14   OGG1   PRRT3   RPUSD3   SEC13   SETD5   SLC6A1   SLC6A11   TADA3   TAMM41   TATDN2   TTLL3   VGLL4   VHL  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3739,453,917 - 12,015,126CLINVAR
Cytogenetic Map33p25.3-25.2CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14698891
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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