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Variant : CV73709 (GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3) Homo sapiens

Symbol: CV73709
Name: GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052912]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052912]|See cases [RCV000052912]
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   ADGRE2   ADGRE3   ADGRE5   ADGRL1   AKAP8   AKAP8L   ANKLE1   ANO8   AP1M1   ARMC6   ARRDC2   ASF1B   ATP13A1   B3GNT3   BABAM1   BISPR   BORCS8   BORCS8-MEF2B   BRD4   BST2   C19orf44   C19orf67   CALR3   CASP14   CCDC105   CCDC124   CCDC194   CERS1   CHERP   CIB3   CILP2   CLEC17A   CLEC4O   COLGALT1   COMP   COPE   CPAMD8   CRLF1   CRTC1   CYP4F11   CYP4F12   CYP4F2   CYP4F22   CYP4F3   CYP4F8   DDA1   DDX39A   DDX49   DNAJB1   ELL   EPHX3   EPS15L1   F2RL3   FAM32A   FCHO1   FKBP8   GATAD2A   GDF1   GDF15   GIPC1   GMIP   GTPBP3   HAPLN4   HAUS8   HOMER3   HOMER3-AS1   HSH2D   IFI30   IL12RB1   IL27RA   ILVBL   INSL3   IQCN   ISYNA1   JAK3   JUND   KCNN1   KLF2   KLHL26   KXD1   LINC00661   LINC00662   LINC00663   LINC00664   LINC00905   LINC01224   LINC01233   LINC01764   LINC01785   LINC01841   LINC01842   LINC01855   LINC01858   LINC01859   LPAR2   LRRC25   LSM4   MAP1S   MAST3   MAU2   MED26   MEF2B   MIR1199   MIR1270   MIR1470   MIR3188   MIR3189   MIR639   MIR640   MIR6795   MISP3   MPV17L2   MRPL34   MVB12A   MYO9B   NCAN   NDUFA13   NDUFB7   NIBAN3   NOTCH3   NR2C2AP   NR2F6   NWD1   NXNL1   OCEL1   OR10H1   OR10H2   OR10H3   OR10H4   OR10H5   OR1I1   OR7A10   OR7A17   OR7A5   OR7C1   OR7C2   PALM3   PBX4   PDE4C   PGLS   PGLYRP2   PGPEP1   PIK3R2   PKN1   PLVAP   PRKACA   PTGER1   RAB3A   RAB8A   RASAL3   REX1BD   RFX1   RFXANK   RLN3   RPL18A   RPSAP58   SAMD1   SIN3B   SLC1A6   SLC25A42   SLC27A1   SLC35E1   SLC5A5   SMIM7   SNORA104   SNORA118   SNORA68   SSBP4   SUGP1   SUGP2   SYDE1   TECR   TM6SF2   TMEM161A   TMEM221   TMEM38A   TMEM59L   TPM4   TSSK6   UBA52   UCA1   UNC13A   UPF1   USE1   USHBP1   WIZ   YJEFN3   ZNF100   ZNF101   ZNF14   ZNF208   ZNF253   ZNF254   ZNF257   ZNF333   ZNF429   ZNF43   ZNF430   ZNF431   ZNF486   ZNF492   ZNF493   ZNF506   ZNF56   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.(?_13974677)_(27839676_?)dup
NC_000019.9:g.(?_14085489)_(28330584_?)dup
NC_000019.8:g.(?_13946489)_(33022424_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381913,974,677 - 27,839,676CLINVAR
GRCh371914,085,489 - 28,330,584CLINVAR
Build 361913,946,489 - 33,022,424CLINVAR
Cytogenetic Map1919p13.12-q11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619882
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.