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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: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|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: ACP5   ANGPTL8   AP1M2   ATG4D   BEST2   C19orf38   C19orf53   C19orf57   CACNA1A   CALR   CARM1   CC2D1A   CCDC130   CCDC151   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   LYL1   MAN2B1   MAST1   MIR1181   MIR1238   MIR181C   MIR181D   MIR199A1   MIR23A   MIR24-2   MIR27A   MIR4748   MIR5684   MIR5695   MIR638   MIR6515   MIR6793   MIR6794   MIR6886   MIR7974   MRI1   NACC1   NANOS3   NFIX   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_10315258)_(14048994_?)dup
NC_000019.9:g.(?_10425934)_(14159806_?)dup
NC_000019.8:g.(?_10286934)_(14020806_?)dup
Position
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: 2019-11-05
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.