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Variant : CV154054 (GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3) Homo sapiens

Symbol: CV154054
Name: GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3
Condition: See cases [RCV000133785]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADA2   ARVCF   ATP6V1E1   BCL2L13   BID   C22orf39   CCDC188   CDC45   CECR2   CECR3   CECR7   CLDN5   CLTCL1   COMT   DGCR10   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   DGCR9   ESS2   FAM230A   FAM230D   FAM230E   FAM230F   FAM230G   FAM230J   GAB4   GGTLC3   GNB1L   GP1BB   GSC2   HDHD5   HDHD5-AS1   HIRA   IL17RA   LINC00528   LINC00895   LINC00896   LINC01311   LINC01634   LINC01664   MICAL3   MIR1286   MIR1306   MIR185   MIR3198-1   MIR3618   MIR4761   MIR648   MIR6816   MRPL40   PEX26   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SEPTIN5   SLC25A1   SLC25A18   SNORA77B   TANGO2   TBX1   TMEM121B   TMEM191B   TRMT2A   TSSK2   TUBA8   TXNRD2   UFD1   USP18   ZDHHC8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_16916608)_(20354644_?)dup
NC_000022.10:g.(?_17397498)_(20708934_?)dup
NC_000022.9:g.(?_15777498)_(19038934_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382216,916,608 - 20,354,644CLINVAR
GRCh372217,397,498 - 20,708,934CLINVAR
Build 362215,777,498 - 19,038,934CLINVAR
Cytogenetic Map2222q11.1-11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481370
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.