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Variant : CV71637 (GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3) Homo sapiens

Symbol: CV71637
Name: GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050635]|See cases [RCV000050635]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD8   ANKLE1   ANKRD27   ANO8   ARMC6   ARRDC2   ATP13A1   B3GNT3   BABAM1   BISPR   BORCS8   BORCS8-MEF2B   BST2   C19orf12   CCDC124   CCDC194   CCNE1   CEBPA   CEBPA-DT   CEBPG   CEP89   CERS1   CHST8   CILP2   COLGALT1   COMP   COPE   CRLF1   CRTC1   DDA1   DDX49   DPY19L3   ELL   FAAP24   FCHO1   FKBP8   GATAD2A   GDF1   GDF15   GMIP   GPATCH1   GPI   GTPBP3   HAPLN4   HOMER3   HOMER3-AS1   IFI30   IL12RB1   INSL3   IQCN   ISYNA1   JAK3   JUND   KCNN1   KCTD15   KIAA0355   KLHL26   KXD1   LINC00662   LINC00663   LINC00664   LINC00904   LINC00906   LINC01224   LINC01233   LINC01532   LINC01533   LINC01782   LINC01785   LINC01791   LINC01801   LINC01834   LINC01838   LINC01858   LINC01859   LINC02841   LPAR2   LRP3   LRRC25   LSM14A   LSM4   MAP1S   MAST3   MAU2   MEF2B   MIR1270   MIR3188   MIR3189   MIR640   MPV17L2   MRPL34   MVB12A   MYO9B   NCAN   NDUFA13   NIBAN3   NR2C2AP   NR2F6   NUDT19   NXNL1   OCEL1   PBX4   PDCD2L   PDCD5   PDE4C   PEPD   PGLS   PGPEP1   PIK3R2   PLEKHF1   PLVAP   POP4   RAB3A   REX1BD   RFXANK   RGS9BP   RHPN2   RPL18A   RPSAP58   SCGB2B2   SLC25A42   SLC27A1   SLC5A5   SLC7A10   SLC7A9   SNORA68   SNORA68B   SSBP4   SUGP1   SUGP2   TDRD12   TM6SF2   TMEM161A   TMEM221   TMEM59L   TRT-AGT1-3   TSHZ3   TSSK6   UBA2   UBA52   UNC13A   UPF1   UQCRFS1   URI1   USE1   USHBP1   VSTM2B   WDR88   WTIP   YJEFN3   ZNF100   ZNF101   ZNF14   ZNF181   ZNF208   ZNF253   ZNF254   ZNF257   ZNF30   ZNF30-AS1   ZNF302   ZNF429   ZNF43   ZNF430   ZNF431   ZNF486   ZNF492   ZNF493   ZNF506   ZNF507   ZNF536   ZNF56   ZNF599   ZNF626   ZNF66   ZNF675   ZNF676   ZNF681   ZNF682   ZNF708   ZNF714   ZNF723   ZNF724   ZNF726   ZNF728   ZNF729   ZNF730   ZNF737   ZNF738   ZNF85   ZNF90   ZNF91   ZNF93   ZNF98   ZNF99  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_17176767)_(34924150_?)dup
NC_000019.9:g.(?_17287576)_(35415054_?)dup
NC_000019.8:g.(?_17148576)_(40106894_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381917,176,767 - 34,924,150CLINVAR
GRCh371917,287,576 - 35,415,054CLINVAR
Build 361917,148,576 - 40,106,894CLINVAR
Cytogenetic Map1919p13.11-q13.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617738
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.