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

Variant : CV614618 (Single allele) Homo sapiens

Symbol: CV614618
Name: Single allele
Condition: not provided [RCV000768453]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DLGAP2   ERICH1   FBXO25   KBTBD11   MCPH1   MYOM2   TDRP   XKR5   ZNF596  
Variant Type: deletion (SO:0000159)
Evidence: case-control
Human AssemblyChrPosition (strand)Source
GRCh378155,001 - 6,955,001CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14399335
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


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