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Variant : CV676190 (GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3) Homo sapiens

Symbol: CV676190
Name: GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3
Condition: not provided [RCV000849289]
Clinical Significance: pathogenic
Last Evaluated: 05/12/2017
Review Status: no assertion criteria provided
Related Genes: ADAMTS19   ADGRV1   ALDH7A1   AP3S1   APC   ARL14EPL   ARRDC3   ARSK   ATG12   C5orf63   CAMK4   CAST   CCDC112   CDO1   CEP120   CHD1   CHSY3   COMMD10   CSNK1G3   CTXN3   DCP2   DMXL1   DTWD2   EFNA5   ELL2   EPB41L4A   ERAP1   ERAP2   FAM170A   FAM172A   FAM174A   FAM81B   FBN2   FBXL17   FEM1C   FER   FTMT   GIN1   GLRX   GPR150   GRAMD2B   HSD17B4   ISOC1   KCNN2   KIAA0825   LIX1   LMNB1   LNPEP   LOX   LUCAT1   LVRN   MACIR   MAN2A1   MARCHF3   MCC   MCTP1   MEGF10   MINAR2   NR2F1   NREP   NUDT12   PAM   PCSK1   PGGT1B   PHAX   PJA2   POU5F2   PPIC   PPIP5K2   PRDM6   PRR16   PRRC1   REEP5   RFESD   RGMB   RHOBTB3   RIOK2   SEMA6A   SLC12A2   SLC25A46   SLC27A6   SLCO4C1   SLCO6A1   SLF1   SNCAIP   SNX2   SNX24   SPATA9   SRFBP1   SRP19   ST8SIA4   STARD4   TEX43   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TRIM36   TSLP   TSSK1B   TTC37   WDR36   YTHDC2   ZNF474   ZNF608  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37589,949,118 - 129,317,455CLINVAR
Cytogenetic Map55q14.3-23.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14976611
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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