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

Variant : CV247900 (GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3) Homo sapiens

Symbol: CV247900
Name: GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3
Condition: See cases [RCV000239839]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ACP7   ACTN4   AKT2   BLVRB   C19orf33   C19orf47   C19orf54   CAPN12   CATSPERG   CCNP   CLC   COQ8B   CYP2A13   CYP2A6   CYP2A7   CYP2B6   CYP2F1   DLL3   DPF1   DYRK1B   ECH1   EGLN2   EID2   EID2B   EIF3K   FAM98C   FBL   FBXO17   FBXO27   FCGBP   GGN   GMFG   HIPK4   HNRNPL   IFNL1   IFNL2   IFNL3   ITPKC   KCNK6   LEUTX   LGALS13   LGALS14   LGALS16   LGALS4   LGALS7   LGALS7B   LRFN1   LTBP4   MAP3K10   MAP4K1   MED29   MIA   MRPS12   NCCRP1   NFKBIB   NUMBL   PAF1   PAK4   PLD3   PLEKHG2   PPP1R14A   PRX   PSMC4   PSMD8   RAB4B   RASGRP4   RINL   RPS16   RYR1   SAMD4B   SARS2   SELENOV   SERTAD1   SERTAD3   SHKBP1   SIPA1L3   SIRT2   SNRPA   SPINT2   SPRED3   SPTBN4   SUPT5H   SYCN   TIMM50   TTC9B   WDR87   YIF1B   ZFP30   ZFP36   ZNF383   ZNF420   ZNF527   ZNF540   ZNF546   ZNF569   ZNF570   ZNF571   ZNF573   ZNF585A   ZNF585B   ZNF607   ZNF780A   ZNF780B   ZNF781   ZNF793   ZNF875  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371937,582,250 - 41,630,908CLINVAR
Cytogenetic Map1919q13.12-13.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541339
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE



NHLBI Logo

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