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Variant : CV71877 (GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3) Homo sapiens

Symbol: CV71877
Name: GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3
Condition: Hydrocephalus [RCV000050957]|See cases [RCV000050957]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AARSD1   AATF   ABCC3   ABI3   ACACA   ACBD4   ACE   ACLY   ACSF2   ADAM11   AKAP1   ANKFN1   ANKRD40   ANKRD40CL   AOC2   AOC3   APOH   APPBP2   ARHGAP23   ARHGAP27   ARL17A   ARL17B   ARL4D   ARL5C   ASB16   ASB16-AS1   ATP5MC1   ATP6V0A1   ATXN7L3   AXIN2   B4GALNT2   BCAS3   BECN1   BPTF   BRCA1   BRIP1   C17orf113   C17orf58   C17orf64   C17orf67   C17orf78   C17orf98   C1QL1   CA10   CA4   CACNA1G   CACNA1G-AS1   CACNB1   CACNG1   CACNG4   CACNG5   CALCOCO2   CASC3   CAVIN1   CBX1   CCDC103   CCDC182   CCDC200   CCDC43   CCDC47   CCR10   CCR7   CD300LG   CD79B   CDC27   CDC6   CDK12   CDK5RAP3   CEP112   CEP95   CFAP97D1   CHAD   CISD3   CLTC   CNP   CNTD1   CNTNAP1   COA3   COASY   COIL   COL1A1   COPZ2   COX11   CRHR1   CSF3   CSH1   CSH2   CSHL1   CUEDC1   CWC25   CYB561   DBF4B   DCAF7   DCAKD   DDX42   DDX5   DDX52   DGKE   DHRS11   DHX40   DHX58   DHX8   DLX3   DLX4   DNAJC7   DUSP14   DUSP3   DYNLL2   EFCAB13   EFCAB3   EFTUD2   EIF1   EME1   EPN3   EPOP   EPX   ERBB2   ERN1   ETV4   EZH1   FAM117A   FAM171A2   FAM187A   FAM215A   FAM215B   FBXL20   FBXO47   FKBP10   FLJ40194   FMNL1   FTSJ3   FZD2   G6PC   G6PC3   GAST   GDPD1   GFAP   GGNBP2   GH1   GH2   GHDC   GIP   GJC1   GJD3   GNA13   GNGT2   GOSR2   GPATCH8   GPR179   GRB7   GRN   GSDMA   GSDMB   HAP1   HCRT   HDAC5   HEATR6   HELZ   HEXIM1   HEXIM2   HIGD1B   HLF   HNF1B   HOXB-AS1   HOXB-AS3   HOXB1   HOXB13   HOXB2   HOXB3   HOXB4   HOXB5   HOXB6   HOXB7   HOXB8   HOXB9   HROB   HSD17B1   HSF5   HSPB9   ICAM2   IFI35   IGF2BP1   IGFBP4   IKZF3   INTS2   ITGA2B   ITGA3   ITGB3   JUP   KANSL1   KANSL1-AS1   KAT2A   KAT7   KCNH4   KCNH6   KIF18B   KIF2B   KLHL10   KLHL11   KPNA2   KPNB1   KRT10   KRT12   KRT13   KRT14   KRT15   KRT16   KRT17   KRT19   KRT20   KRT222   KRT23   KRT24   KRT25   KRT26   KRT27   KRT28   KRT31   KRT32   KRT33A   KRT33B   KRT34   KRT35   KRT36   KRT37   KRT38   KRT39   KRT40   KRT9   KRTAP1-1   KRTAP1-3   KRTAP1-4   KRTAP1-5   KRTAP16-1   KRTAP17-1   KRTAP2-1   KRTAP2-2   KRTAP2-3   KRTAP2-4   KRTAP29-1   KRTAP3-1   KRTAP3-2   KRTAP3-3   KRTAP4-1   KRTAP4-11   KRTAP4-12   KRTAP4-2   KRTAP4-3   KRTAP4-4   KRTAP4-5   KRTAP4-6   KRTAP4-7   KRTAP4-8   KRTAP4-9   KRTAP9-1   KRTAP9-2   KRTAP9-3   KRTAP9-4   KRTAP9-6   KRTAP9-7   KRTAP9-8   KRTAP9-9   LASP1   LHX1   LHX1-DT   LIMD2   LINC00671   LINC00672   LINC00674   LINC00910   LINC00974   LINC01180   LINC01476   LINC01969   LINC01974   LINC01976   LINC01982   LINC01999   LINC02071   LINC02072   LINC02073   LINC02075   LINC02079   LINC02086   LINC02089   LINC02210   LINC02210-CRHR1   LINC02563   LINC02594   LINC02875   LINC02876   LPO   LRRC37A   LRRC37A2   LRRC37A3   LRRC3C   LRRC46   LRRC59   LSM12   LUC7L3   MAP3K14   MAP3K14-AS1   MAP3K3   MAPT   MAPT-AS1   MAPT-IT1   MARCHF10   MARCHF10-DT   MBTD1   MED1   MED13   MED24   MEIOC   MEOX1   METTL2A   MIEN1   MILR1   MIR10226   MIR10A   MIR1203   MIR142   MIR152   MIR196A1   MIR21   MIR2117   MIR2117HG   MIR2909   MIR301A   MIR3064   MIR3185   MIR3614   MIR378J   MIR4315-1   MIR4315-2   MIR454   MIR4726   MIR4727   MIR4728   MIR4729   MIR4734   MIR4736   MIR4737   MIR5010   MIR5047   MIR5089   MIR548AA2   MIR548AT   MIR548BC   MIR548D2   MIR6080   MIR6129   MIR6165   MIR633   MIR634   MIR6510   MIR6779   MIR6780A   MIR6781   MIR6782   MIR6783   MIR6784   MIR6866   MIR6867   MIR6884   MIR8059   MKS1   MLLT6   MLX   MMD   MPO   MPP2   MPP3   MRC2   MRM1   MRPL10   MRPL27   MRPL45   MRPS23   MSI2   MSL1   MTMR4   MYCBPAP   MYL4   MYO19   NACA2   NAGLU   NAGS   NBR1   NBR2   NEUROD2   NFE2L1   NGFR   NKIRAS2   NME1   NME1-NME2   NME2   NMT1   NOG   NOL11   NPEPPS   NR1D1   NSF   NT5C3B   NXPH3   OR4D1   OR4D2   ORMDL3   OSBPL7   P3H4   PCGF2   PCTP   PDK2   PECAM1   PGAP3   PHB   PHOSPHO1   PICART1   PIGW   PIP4K2B   PITPNC1   PLCD3   PLEKHH3   PLEKHM1   PLXDC1   PNMT   PNPO   POLG2   PPM1D   PPM1E   PPP1R1B   PPP1R9B   PPY   PRAC1   PRAC2   PRKCA   PRKCA-AS1   PRR11   PRR15L   PRR29   PRR29-AS1   PSMB3   PSMC3IP   PSMC5   PSMD12   PSMD3   PSME3   PTGES3L   PTGES3L-AARSD1   PTRH2   PYY   RAB5C   RAD51C   RAMP2   RAMP2-AS1   RAPGEFL1   RARA   RARA-AS1   RETREG3   RGS9   RND2   RNF43   RNFT1   RNFT1-DT   RNU2-1   RPL19   RPL23   RPL27   RPRML   RPS6KB1   RSAD1   RUNDC1   RUNDC3A   RUNDC3A-AS1   SAMD14   SCARNA20   SCN4A   SCPEP1   SCRN2   SEPTIN4   SEPTIN4-AS1   SGCA   SKA2   SKAP1   SLC25A39   SLC35B1   SLC4A1   SMARCD2   SMARCE1   SMG8   SMURF2   SNF8   SNHG25   SNORA21   SNORA21B   SNORA38B   SNORA50C   SNORA90   SNORD104   SNORD124   SNX11   SOCS7   SOST   SP2   SP2-AS1   SP6   SPAG9   SPATA20   SPATA32   SPOP   SPPL2C   SRCIN1   SRSF1   STAC2   STARD3   STAT3   STAT5A   STAT5B   STH   STRADA   STXBP4   SUPT4H1   SYNRG   TAC4   TACO1   TADA2A   TANC2   TBC1D3   TBC1D3C   TBC1D3D   TBC1D3E   TBC1D3J   TBC1D3K   TBC1D3L   TBKBP1   TBX2   TBX2-AS1   TBX21   TBX4   TCAP   TEX14   TEX2   THRA   TLK2   TMEM100   TMEM101   TMEM106A   TMEM92   TMEM92-AS1   TMEM99   TMUB2   TNS4   TOB1   TOB1-AS1   TOM1L1   TOP2A   TRC-GCA14-1   TRC-GCA2-2   TRC-GCA2-3   TRC-GCA2-4   TRC-GCA4-1   TRIM25   TRIM37   TRN-GTT2-5   TRQ-TTG1-1   TRR-CCG2-1   TRSUP-TTA1-1   TSPOAP1   TSPOAP1-AS1   TTC25   TTLL6   TUBD1   TUBG1   TUBG2   UBE2Z   UBTF   USP32   UTP18   VAT1   VEZF1   VMP1   VPS25   WFIKKN2   WIPF2   WNK4   WNT3   WNT9B   XYLT2   YPEL2   ZNF385C   ZNF652   ZNHIT3   ZPBP2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_36449220)_(68170214_?)dup
NC_000017.10:g.(?_48563237)_(65936105_?)dup
NC_000017.9:g.(?_45918236)_(63677950_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381736,449,220 - 68,170,214CLINVAR
GRCh371748,563,237 - 65,936,105CLINVAR
Build 361745,918,236 - 63,677,950CLINVAR
Cytogenetic Map1717q21.33-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618013
Created: 2014-05-13
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.