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

Variant : CV157321 (GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3) Homo sapiens

Symbol: CV157321
Name: GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3
Condition: See cases [RCV000136738]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP1M2   ATG4D   C19orf38   CARM1   CDC37   CDKN2D   DNM2   DNMT1   FDX2   ICAM1   ICAM3   ICAM4   ICAM5   ILF3   ILF3-DT   KEAP1   KRI1   MIR1181   MIR1238   MIR199A1   MIR4322   MIR4748   MIR638   MIR6793   MRPL4   PDE4A   QTRT1   RAVER1   S1PR2   S1PR5   SLC44A2   TMED1   TYK2   ZGLP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_10156406)_(10889688_?)dup
NC_000019.8:g.(?_10128082)_(10861364_?)dup
NC_000019.9:g.(?_10267082)_(11000364_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381910,156,406 - 10,889,688CLINVAR
GRCh371910,267,082 - 11,000,364CLINVAR
Build 361910,128,082 - 10,861,364CLINVAR
Cytogenetic Map1919p13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484299
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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