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Variant : CV74667 (GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1) Homo sapiens

Symbol: CV74667
Name: GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944]
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   ADGRE5   ADGRL1   ANGPTL8   ASF1B   BEST2   BRME1   C19orf53   C19orf67   CACNA1A   CALR   CC2D1A   CCDC130   CCDC159   CNN1   DAND5   DCAF15   DDX39A   DHPS   DNAJB1   DNASE2   DOCK6   ECSIT   ELAVL3   ELOF1   EPOR   FARSA   FBXW9   GADD45GIP1   GCDH   GET3   GIPC1   GNG14   HOOK2   IER2   IL27RA   JUNB   KLF1   LINC01841   LINC01842   LYL1   MAN2B1   MAST1   MIR1199   MIR181C   MIR181D   MIR23A   MIR24-2   MIR27A   MIR5684   MIR5695   MIR639   MIR6515   MIR6794   MIR7974   MISP3   MRI1   NACC1   NANOS3   NFIX   ODAD3   PALM3   PKN1   PLPPR2   PODNL1   PRDX2   PRKACA   PRKCSH   PTGER1   RAB3D   RAD23A   RFX1   RGL3   RLN3   RNASEH2A   RTBDN   SAMD1   SNORD135   SNORD41   STX10   SWSAP1   SYCE2   TECR   TMEM205   TNPO2   TRIR   TRMT1   TSPAN16   WDR83   WDR83OS   ZNF136   ZNF20   ZNF433   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 loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_11227942)_(14532135_?)del
NC_000019.9:g.(?_11338618)_(14642947_?)del
NC_000019.8:g.(?_11199618)_(14503947_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,227,942 - 14,532,135CLINVAR
GRCh371911,338,618 - 14,642,947CLINVAR
Build 361911,199,618 - 14,503,947CLINVAR
Cytogenetic Map1919p13.2-13.12CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620859
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.