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Variant : CV623752 (Single allele) Homo sapiens

Symbol: CV623752
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787445]
Clinical Significance: likely pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: BLK   C8orf74   CLDN23   CTSB   DEFB134   DEFB135   DEFB136   ERI1   FAM167A   FDFT1   GATA4   MFHAS1   MIR124-1   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   TNKS   XKR6   ZNF705D  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3788,112,589 - 11,967,869CLINVAR
Cytogenetic Map88p23.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14698858
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE



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