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Variant : CV73706 (GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3) Homo sapiens

Symbol: CV73706
Name: GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3
Condition: See cases [RCV000052909]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC011472.1   ACP5   ANGPTL8   AP1M2   ATG4D   BEST2   BRME1   C19orf38   C19orf53   CACNA1A   CALR   CARM1   CC2D1A   CCDC130   CCDC159   CDC37   CDKN2D   CNN1   DAND5   DCAF15   DHPS   DNASE2   DNM2   DOCK6   ECSIT   ELAVL3   ELOF1   EPOR   FARSA   FARSA-AS1   FBXW9   FDX2   GADD45GIP1   GCDH   GET3   GNG14   HOOK2   ICAM3   IER2   IL27RA   ILF3   ILF3-DT   JUNB   KANK2   KEAP1   KLF1   KRI1   LDLR   LDLR-AS1   LOC100289333   LOC108663985   LOC110121441   LOC110121458   LOC111365163   LOC112543445   LOC112543446   LOC112543448   LOC112543452   LOC112543454   LOC112543455   LOC112543458   LOC112543459   LOC116276503   LOC116276504   LOC116276505   LOC117038783   LOC117038784   LOC117038785   LOC117038786   LOC117038787   LOC117038788   LOC117038789   LOC117038790   LOC117038791   LOC117038792   LOC117038793   LOC117038794   LOC117038795   LOC117125585   LOC117125586   LOC117125587   LOC117125588   LOC117125589   LOC117125590   LOC117125591   LOC117125592   LOC117125593   LOC117125594   LOC117125595   LOC117125596   LOC117125597   LOC117125598   LYL1   MAN2B1   MAST1   MIR1181   MIR1238   MIR181C   MIR181D   MIR199A1   MIR23A   MIR23AHG   MIR24-2   MIR27A   MIR4748   MIR5684   MIR5695   MIR638   MIR6515   MIR6793   MIR6794   MIR6886   MIR7974   MRI1   NACC1   NANOS3   NFIX   ODAD3   PDE4A   PLPPR2   PODNL1   PRDX2   PRKCSH   QTRT1   RAB3D   RAD23A   RAVER1   RFX1   RGL3   RLN3   RNASEH2A   RTBDN   S1PR5   SLC44A2   SMARCA4   SNORD135   SNORD41   SPC24   STX10   SWSAP1   SYCE2   TIMM29   TMED1   TMEM205   TNPO2   TRIR   TRMT1   TSPAN16   TYK2   WDR83   WDR83OS   YIPF2   ZNF136   ZNF20   ZNF433   ZNF433-AS1   ZNF439   ZNF44   ZNF440   ZNF441   ZNF442   ZNF443   ZNF490   ZNF491   ZNF563   ZNF564   ZNF625   ZNF625-ZNF20   ZNF627   ZNF653   ZNF69   ZNF700   ZNF709   ZNF763   ZNF788P   ZNF791   ZNF799   ZNF823   ZNF844   ZNF878   ZSWIM4  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_10315258)_(14048994_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381910,315,258 - 14,048,994CLINVAR
GRCh371910,425,934 - 14,159,806CLINVAR
Build 361910,286,934 - 14,020,806CLINVAR
Cytogenetic Map1919p13.2-13.12CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619879
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.