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Variant : CV165029 (GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3) Homo sapiens

Symbol: CV165029
Name: GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3
Condition: See cases [RCV000143342]
Clinical Significance: pathogenic
Last Evaluated: 10/23/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AANAT   AATK   ACOX1   ACTG1   AFMID   ALYREF   ANAPC11   ARHGDIA   ARL16   ARMC7   ASPSCR1   ATP5PD   B3GNTL1   BAHCC1   BAIAP2   BAIAP2-DT   BIRC5   BTBD17   C17orf77   C17orf80   C17orf99   C1QTNF1   C1QTNF1-AS1   CANT1   CARD14   CASC17   CASKIN2   CBX2   CBX4   CBX8   CCDC137   CCDC40   CCDC57   CD300A   CD300C   CD300E   CD300H   CD300LB   CD300LD   CD300LF   CD7   CDC42EP4   CDK3   CDR2L   CENPX   CEP131   CEP295NL   CHMP6   COG1   CPSF4L   CSNK1D   CYBC1   CYGB   CYTH1   DCXR   DCXR-DT   DNAH17   DNAH17-AS1   DNAI2   DUS1L   EIF4A3   ENDOV   ENGASE   ENPP7   EVPL   EXOC7   FAAP100   FADS6   FAM104A   FASN   FBF1   FDXR   FN3K   FN3KRP   FOXJ1   FOXK2   FSCN2   GAA   GALK1   GALR2   GCGR   GGA3   GPR142   GPRC5C   GPS1   GRB2   GRIN2C   H3-3B   HEXD   HEXD-IT1   HGS   HID1   HID1-AS1   ITGB4   JMJD6   JPT1   KCNJ16   KCNJ2   KCNJ2-AS1   KCTD2   KIF19   LGALS3BP   LINC00469   LINC00482   LINC00511   LINC00673   LINC00868   LINC01028   LINC01152   LINC01497   LINC01970   LINC01971   LINC01973   LINC01977   LINC01978   LINC01979   LINC01987   LINC01993   LINC02003   LINC02074   LINC02078   LINC02080   LINC02092   LINC02097   LLGL2   LOC400627   LRRC45   MAFG   MAFG-DT   MCRIP1   METRNL   METTL23   MFSD11   MGAT5B   MIF4GD   MIR1250   MIR1268B   MIR3065   MIR3186   MIR338   MIR3615   MIR3678   MIR4316   MIR4525   MIR4730   MIR4738   MIR4739   MIR4740   MIR636   MIR6516   MIR657   MIR6785   MIR6786   MIR6787   MIR6868   MRPL12   MRPL38   MRPL58   MRPS7   MXRA7   MYADML2   MYO15B   NARF   NAT9   NDUFAF8   NOTUM   NPB   NPLOC4   NPTX1   NT5C   NUP85   OGFOD3   OTOP2   OTOP3   OXLD1   P4HB   PCYT2   PDE6G   PGS1   PPP1R27   PRCD   PRPSAP1   PVALEF   PYCR1   QRICH2   RAB37   RAB40B   RAC3   RBFOX3   RECQL5   RFNG   RHBDF2   RNF157   RNF157-AS1   RNF213   RNF213-AS1   ROCR   RPL38   RPTOR   SAP30BP   SCARNA16   SCAT1   SDK2   SEC14L1   SECTM1   SEPTIN9   SEPTIN9-DT   SGSH   SIRT7   SLC16A3   SLC16A5   SLC25A10   SLC25A19   SLC26A11   SLC38A10   SLC39A11   SLC9A3R1   SMIM5   SMIM6   SNHG16   SNHG20   SNORD134   SNORD1A   SNORD1B   SNORD1C   SOCS3   SOX9   SOX9-AS1   SPHK1   SRP68   SRSF2   SSTR2   ST6GALNAC1   ST6GALNAC2   SUMO2   SYNGR2   TBC1D16   TBCD   TEN1   TEN1-CDK3   TEPSIN   TEX19   TIMP2   TK1   TMC6   TMC8   TMEM104   TMEM105   TMEM235   TMEM94   TNRC6C   TNRC6C-AS1   TRIM47   TRIM65   TRR-CCT1-1   TRR-CCT2-1   TRR-TCG3-1   TRX-CAT1-8   TSEN54   TSPAN10   TTYH2   UBALD2   UBE2O   UNC13D   UNK   USH1G   USP36   UTS2R   WBP2   WDR45B   ZACN   ZNF750  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_69916435)_(83102552_?)dup
NC_000017.10:g.(?_67912576)_(81048189_?)dup
NC_000017.9:g.(?_65424171)_(78653717_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381769,916,435 - 83,102,552CLINVAR
GRCh371767,912,576 - 81,048,189CLINVAR
Build 361765,424,171 - 78,653,717CLINVAR
Cytogenetic Map1717q24.3-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490940
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.