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Variant : CV613344 (GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3) Homo sapiens

Symbol: CV613344
Name: GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3
Condition: not provided [RCV000762750]
Clinical Significance: likely pathogenic
Last Evaluated: 04/27/2018
Review Status: criteria provided, single submitter
Related Genes: AANAT   ABCA10   ABCA5   ABCA6   ABCA8   ABCA9   ACOX1   AMZ2   APOH   ARMC7   ARSG   ATP5PD   BPTF   BTBD17   C17orf58   C17orf77   C17orf80   CACNG1   CACNG4   CACNG5   CASKIN2   CD300A   CD300C   CD300E   CD300LB   CD300LD   CD300LF   CDC42EP4   CDK3   CDR2L   CEP112   COG1   CPSF4L   CYGB   DNAI2   EVPL   EXOC7   FADS6   FAM104A   FAM20A   FBF1   FDXR   FOXJ1   GALK1   GALR2   GGA3   GPR142   GPRC5C   GRB2   GRIN2C   H3-3B   HELZ   HID1   ITGB4   JMJD6   JPT1   KCNJ16   KCNJ2   KCTD2   KIF19   KPNA2   LLGL2   MAP2K6   METTL23   MFSD11   MGAT5B   MIF4GD   MRPL38   MRPL58   MRPS7   MXRA7   NAT9   NOL11   NT5C   NUP85   OTOP2   OTOP3   PITPNC1   PRCD   PRKAR1A   PRKCA   PRPSAP1   PSMD12   QRICH2   RAB37   RECQL5   RHBDF2   RNF157   RPL38   SAP30BP   SDK2   SLC16A5   SLC16A6   SLC25A19   SLC39A11   SLC9A3R1   SMIM5   SMIM6   SOX9   SPHK1   SRP68   SRSF2   SSTR2   ST6GALNAC1   ST6GALNAC2   SUMO2   TEN1   TMEM104   TMEM94   TRIM47   TRIM65   TSEN54   TTYH2   UBALD2   UBE2O   UNC13D   UNK   USH1G   WBP2   WIPI1   ZACN  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371764,159,738 - 74,891,024CLINVAR
Cytogenetic Map1717q24.1-25.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14397470
Created: 2019-04-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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