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

Variant : CV436799 (GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1) Homo sapiens

Symbol: CV436799
Name: GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1
Condition: See cases [RCV000511130]
Clinical Significance: pathogenic
Last Evaluated: 06/22/2015
Review Status: no assertion criteria provided
Related Genes: ADGRE5   ADGRL1   ASF1B   BEST2   C19orf53   C19orf57   C19orf67   CACNA1A   CALR   CC2D1A   CCDC130   CLEC17A   DAND5   DCAF15   DDX39A   DHPS   DNAJB1   DNASE2   FARSA   FBXW9   GADD45GIP1   GCDH   GET3   GIPC1   HOOK2   IER2   IL27RA   JUNB   KLF1   LYL1   MAN2B1   MAST1   MIR181C   MIR23A   MIR24-2   MIR27A   MRI1   NACC1   NANOS3   NDUFB7   NFIX   PALM3   PKN1   PODNL1   PRDX2   PRKACA   PTGER1   RAD23A   RFX1   RLN3   RNASEH2A   RTBDN   SAMD1   STX10   SYCE2   TECR   TNPO2   TRIR   TRMT1   WDR83   WDR83OS   ZNF490   ZNF564   ZNF709   ZNF791   ZSWIM4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371912,574,343 - 14,726,197CLINVAR
Cytogenetic Map1919p13.2-13.12CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13444105
Created: 2017-11-07
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.