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

Variant : CV384149 (GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1) Homo sapiens

Symbol: CV384149
Name: GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1
Condition: See cases [RCV000445968]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ALDH7A1   AP3S1   APC   ARL14EPL   ATG12   CAMK4   CCDC112   CDO1   CEP120   COMMD10   CSNK1G3   DCP2   DMXL1   DTWD2   EFNA5   EPB41L4A   FAM170A   FBXL17   FEM1C   FER   FTMT   GIN1   GRAMD2B   HSD17B4   KCNN2   LOX   LVRN   MACIR   MAN2A1   MCC   NREP   NUDT12   PAM   PGGT1B   PJA2   PPIC   PPIP5K2   PRDM6   PRR16   REEP5   SEMA6A   SLC25A46   SLCO4C1   SLCO6A1   SNCAIP   SNX2   SNX24   SRFBP1   SRP19   STARD4   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TRIM36   TSLP   TSSK1B   WDR36   YTHDC2   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh375100,607,918 - 125,900,735CLINVAR
Cytogenetic Map55q21.1-23.2CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850697
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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