Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73673 (GRCh38/hg38 19p13.3(chr19:259395-1952650)x3) Homo sapiens

Symbol: CV73673
Name: GRCh38/hg38 19p13.3(chr19:259395-1952650)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052875]|See cases [RCV000052875]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCA7   ABHD17A   ADAMTSL5   ADAT3   APC2   ARHGAP45   ARID3A   ATP5F1D   ATP8B3   AZU1   BSG   C19orf25   C2CD4C   CBARP   CDC34   CFD   CIRBP   CIRBP-AS1   CNN2   CSNK1G2   CSNK1G2-AS1   DAZAP1   EFNA2   ELANE   FAM174C   FGF22   FSTL3   GAMT   GPX4   GRIN3B   GZMM   HCN2   KISS1R   KLF16   MADCAM1   MBD3   MED16   MEX3D   MIDN   MIER2   MIR1909   MIR3187   MIR4745   MISP   NDUFS7   ODF3L2   ONECUT3   PALM   PCSK4   PLK5   PLPP2   PLPPR3   POLR2E   POLRMT   PRSS57   PRTN3   PTBP1   PWWP3A   R3HDM4   REEP6   REXO1   RNF126   RNU6-2   RNU6-9   RPS15   SBNO2   SCAMP4   SHC2   STK11   TCF3   THEG   TMEM259   TPGS1   TRF-GAA1-6   TRN-GTT2-6   UQCR11   WDR18  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_259395)_(1952650_?)dup
NC_000019.9:g.(?_259395)_(1952649_?)dup
NC_000019.8:g.(?_210395)_(1903649_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3819259,395 - 1,952,650CLINVAR
GRCh3719259,395 - 1,952,649CLINVAR
Build 3619210,395 - 1,903,649CLINVAR
Cytogenetic Map1919p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619845
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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