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

Variant : CV164750 (GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1) Homo sapiens

Symbol: CV164750
Name: GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1
Condition: See cases [RCV000143063]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP6   AP4S1   ARHGAP5   ARHGAP5-AS1   BAZ1A   BRMS1L   CFL2   CLEC14A   COCH   DTD2   EAPP   EGLN3   EGLN3-AS1   FAM177A1   FBXO33   FOXA1   FSCB   GEMIN2   GPR33   HEATR5A   HECTD1   INSM2   LINC00517   LINC00609   LINC00639   LINC02307   LINC02313   LINC02315   LRFN5   MBIP   MIA2   MIPOL1   MIR4503   MIR624   NFKBIA   NKX2-1   NKX2-1-AS1   NKX2-8   NPAS3   NUBPL   PAX9   PNN   PPP2R3C   PRORP   PSMA6   PTCSC3   RALGAPA1   RNU6-7   RNU6-8   SEC23A   SEC23A-AS1   SFTA3   SLC25A21   SLC25A21-AS1   SNORA101B   SNORA89   SNX6   SPTSSA   SRP54   SRP54-AS1   SSTR1   STRN3   TRAPPC6B   TTC6  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_30792271)_(44685131_?)del
Human AssemblyChrPosition (strand)Source
GRCh381430,792,271 - 44,685,131CLINVAR
GRCh371431,261,477 - 45,154,334CLINVAR
Build 361430,331,228 - 44,224,084CLINVAR
Cytogenetic Map1414q12-21.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9490661
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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