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Variant : CV154157 (GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3) Homo sapiens

Symbol: CV154157
Name: GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3
Condition: See cases [RCV000133888]
Clinical Significance: pathogenic
Last Evaluated: 03/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD8   AC002116.2   AC005759.1   AC006213.1   AC006213.2   AC006504.5   AC007773.1   AC008397.1   AC008649.1   AC010247.1   AC010618.3   AC011467.1   AC011474.1   AC011503.1   AC011525.2   AC016582.1   AC020928.1   AC021092.1   AC022098.1   AC079466.1   AC092295.2   ACP5   ACP7   ACTN4   ADGRE2   ADGRE3   ADGRE5   ADGRL1   AKAP8   AKAP8L   AKT2   ALKBH6   ANGPTL8   ANKLE1   ANKRD27   ANO8   AP1M1   APLP1   ARHGAP33   ARHGEF1   ARHGEF1   ARMC6   ARRDC2   ASF1B   ATP13A1   ATP1A3   ATP4A   AXL   B3GNT3   B3GNT8   B9D2   BABAM1   BCKDHA   BEST2   BISPR   BLVRB   BORCS8   BORCS8-MEF2B   BRD4   BST2   C19orf12   C19orf33   C19orf44   C19orf47   C19orf53   C19orf54   C19orf57   C19orf67   CACNA1A   CADM4   CALR   CALR3   CAPN12   CAPNS1   CASP14   CATSPERG   CC2D1A   CCDC105   CCDC124   CCDC130   CCDC151   CCDC159   CCDC194   CCDC97   CCER2   CCNE1   CCNP   CD177   CD22   CD79A   CEACAM1   CEACAM20   CEACAM21   CEACAM3   CEACAM4   CEACAM5   CEACAM6   CEACAM7   CEACAM8   CEACAMP10   CEBPA   CEBPA-DT   CEBPG   CEP89   CERS1   CHERP   CHST8   CIB3   CIC   CILP2   CLC   CLEC17A   CLEC4O   CLIP3   CNFN   CNN1   COLGALT1   COMP   COPE   COQ8B   COX6B1   COX7A1   CPAMD8   CRLF1   CRTC1   CXCL17   CYP2A13   CYP2A6   CYP2A7   CYP2B6   CYP2F1   CYP2S1   CYP4F11   CYP4F12   CYP4F2   CYP4F22   CYP4F3   CYP4F8   DAND5   DCAF15   DDA1   DDX39A   DDX49   DEDD2   DHPS   DLL3   DMAC2   DMKN   DMRTC2   DNAJB1   DNASE2   DOCK6   DPF1   DPY19L3   DYRK1B   ECH1   ECSIT   EGLN2   EID2   EID2B   EIF3K   ELAVL3   ELL   ELOF1   EPHX3   EPOR   EPS15L1   ERF   ERFL   ERICH4   ETHE1   ETV2   EXOSC5   F2RL3   FAAP24   FAM187B   FAM32A   FAM98C   FARSA   FARSA-AS1   FBL   FBXO17   FBXO27   FBXW9   FCGBP   FCHO1   FFAR1   FFAR2   FFAR3   FKBP8   FXYD1   FXYD3   FXYD5   FXYD7   GADD45GIP1   GAPDHS   GARRE1   GATAD2A   GCDH   GDF1   GDF15   GET3   GGN   GIPC1   GMFG   GMIP   GNG14   GPATCH1   GPI   GPR42   GRAMD1A   GRIK5   GSK3A   GTPBP3   HAMP   HAPLN4   HAUS5   HAUS8   HCST   HIPK4   HNRNPL   HNRNPUL1   HOMER3   HOMER3-AS1   HOOK2   HPN   HPN-AS1   HSH2D   HSPB6   IER2   IFI30   IFNL1   IFNL2   IFNL3   IFNL4   IGFLR1   IGSF23   IL12RB1   IL27RA   ILVBL   INSL3   IQCN   IRGC   IRGQ   ISYNA1   ITPKC   JAK3   JUNB   JUND   KCNK6   KCNN1   KCNN4   KCTD15   KIRREL2   KLF1   KLF2   KLHL26   KMT2B   KRTDAP   KXD1   LEUTX   LGALS13   LGALS14   LGALS16   LGALS4   LGALS7   LGALS7B   LGI4   LIN37   LINC00661   LINC00662   LINC00663   LINC00664   LINC00665   LINC00904   LINC00905   LINC00906   LINC01224   LINC01233   LINC01480   LINC01529   LINC01531   LINC01532   LINC01533   LINC01534   LINC01535   LINC01764   LINC01766   LINC01782   LINC01785   LINC01791   LINC01801   LINC01834   LINC01838   LINC01841   LINC01842   LINC01855   LINC01858   LINC01859   LINC02841   LIPE   LIPE-AS1   LIPE-AS1   LPAR2   LRFN1   LRFN3   LRP3   LRRC25   LSM14A   LSM4   LSR   LTBP4   LYL1   LYPD3   LYPD4   LYPD5   MAG   MAN2B1   MAP1S   MAP3K10   MAP4K1   MAST1   MAST3   MAU2   MED26   MED29   MEF2B   MEGF8   MIA   MIA-RAB4B   MIR1199   MIR1270   MIR1470   MIR181C   MIR181D   MIR23A   MIR24-2   MIR27A   MIR3188   MIR3189   MIR4323   MIR4530   MIR5196   MIR5684   MIR5695   MIR639   MIR640   MIR641   MIR6515   MIR6719   MIR6794   MIR6795   MIR6796   MIR6797   MIR6887   MIR7974   MIR8077   MISP3   MPV17L2   MRI1   MRPL34   MRPS12   MVB12A   MYO9B   NACC1   NANOS3   NCAN   NCCRP1   NDUFA13   NDUFB7   NFIX   NFKBIB   NFKBID   NIBAN3   NOTCH3   NPHS1   NR2C2AP   NR2F6   NUDT19   NUMBL   NWD1   NXNL1   OCEL1   OR10H1   OR10H2   OR10H3   OR10H4   OR10H5   OR1I1   OR7A10   OR7A17   OR7A5   OR7C1   OR7C2   OVOL3   PAF1   PAFAH1B3   PAK4   PALM3   PBX4   PCAT19   PDCD2L   PDCD5   PDE4C   PEPD   PGLS   PGLYRP2   PGPEP1   PHLDB3   PIK3R2   PINLYP   PKN1   PLAUR   PLD3   PLEKHF1   PLEKHG2   PLPPR2   PLVAP   PODNL1   POLR2I   POP4   POU2F2   PPP1R14A   PRDX2   PRKACA   PRKCSH   PRODH2   PROSER3   PRR19   PRX   PSENEN   PSG1   PSG11   PSG2   PSG3   PSG4   PSG5   PSG6   PSG7   PSG8   PSG8-AS1   PSG9   PSMC4   PSMD8   PTGER1   RAB3A   RAB3D   RAB4B   RAB4B-EGLN2   RAB8A   RABAC1   RAD23A   RASAL3   RASGRP4   RBM42   REX1BD   RFX1   RFXANK   RGL3   RGS9BP   RHPN2   RINL   RLN3   RNASEH2A   RPL18A   RPS16   RPS19   RPSAP58   RTBDN   RYR1   SAMD1   SAMD4B   SARS2   SBSN   SCGB2B2   SCN1B   SDHAF1   SELENOV   SERTAD1   SERTAD3   SHKBP1   SIN3B   SIPA1L3   SIRT2   SLC1A6   SLC25A42   SLC27A1   SLC35E1   SLC5A5   SLC7A10   SLC7A9   SMG9   SMIM7   SNORA104   SNORA118   SNORA68   SNORA68B   SNORD135   SNORD152   SNORD175   SNORD41   SNRPA   SPINT2   SPRED3   SPTBN4   SRRM5   SSBP4   STX10   SUGP1   SUGP2   SUPT5H   SWSAP1   SYCE2   SYCN   SYDE1   SYNE4   TBCB   TDRD12   TECR   TEX101   TGFB1   THAP8   TIMM50   TM6SF2   TMEM145   TMEM147   TMEM147-AS1   TMEM161A   TMEM205   TMEM221   TMEM38A   TMEM59L   TMEM91   TNPO2   TPM4   TRI-TAT1-1   TRIR   TRMT1   TRT-AGT1-3   TSHZ3   TSPAN16   TSSK6   TTC9B   TYROBP   U2AF1L4   UBA2   UBA52   UCA1   UNC13A   UPF1   UPK1A   UPK1A-AS1   UQCRFS1   URI1   USE1   USF2   USHBP1   VSTM2B   WDR62   WDR83   WDR83OS   WDR87   WDR88   WIZ   WTIP   XRCC1   YIF1B   YJEFN3   ZBTB32   ZFP14   ZFP30   ZFP36   ZFP82   ZNF100   ZNF101   ZNF112   ZNF136   ZNF14   ZNF146   ZNF155   ZNF180   ZNF181   ZNF20   ZNF208   ZNF221   ZNF222   ZNF223   ZNF224   ZNF225   ZNF226   ZNF227   ZNF229   ZNF230   ZNF233   ZNF234   ZNF235   ZNF253   ZNF254   ZNF257   ZNF260   ZNF283   ZNF284   ZNF285   ZNF30   ZNF30-AS1   ZNF302   ZNF333   ZNF345   ZNF382   ZNF383   ZNF404   ZNF420   ZNF428   ZNF429   ZNF43   ZNF430   ZNF431   ZNF433   ZNF433-AS1   ZNF439   ZNF44   ZNF440   ZNF441   ZNF442   ZNF443   ZNF45   ZNF461   ZNF486   ZNF490   ZNF491   ZNF492   ZNF493   ZNF506   ZNF507   ZNF526   ZNF527   ZNF529   ZNF529-AS1   ZNF536   ZNF540   ZNF546   ZNF56   ZNF563   ZNF564   ZNF565   ZNF566   ZNF567   ZNF568   ZNF569   ZNF570   ZNF571   ZNF571-AS1   ZNF573   ZNF574   ZNF575   ZNF576   ZNF585A   ZNF585B   ZNF599   ZNF607   ZNF625   ZNF625-ZNF20   ZNF626   ZNF627   ZNF653   ZNF66   ZNF675   ZNF676   ZNF681   ZNF682   ZNF69   ZNF700   ZNF708   ZNF709   ZNF714   ZNF723   ZNF724   ZNF726   ZNF728   ZNF729   ZNF730   ZNF737   ZNF738   ZNF763   ZNF780A   ZNF780B   ZNF781   ZNF788P   ZNF790   ZNF790-AS1   ZNF791   ZNF792   ZNF793   ZNF793-AS1   ZNF799   ZNF823   ZNF829   ZNF844   ZNF85   ZNF850   ZNF875   ZNF878   ZNF90   ZNF91   ZNF93   ZNF98   ZNF99   ZSWIM4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_11227942)_(44626354_?)dup
NC_000019.9:g.(?_11338618)_(45129651_?)dup
NC_000019.8:g.(?_11199618)_(49821491_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,227,942 - 44,626,354CLINVAR
GRCh371911,338,618 - 45,129,651CLINVAR
Build 361911,199,618 - 49,821,491CLINVAR
Cytogenetic Map1919p13.2-q13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481473
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.