Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV623689 (NC_000015.9:g.30405535_32914190del) Homo sapiens

Symbol: CV623689
Name: NC_000015.9:g.30405535_32914190del
Condition: Neurodevelopmental disorder [RCV000787382]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ARHGAP11A   ARHGAP11B   CHRFAM7A   CHRNA7   FAN1   GOLGA8H   GOLGA8N   GOLGA8O   KLF13   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.30405535_32914190del
Human AssemblyChrPosition (strand)Source
GRCh371530,405,535 - 32,914,190CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14698775
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE


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