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Variant : CV71624 (GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3) Homo sapiens

Symbol: CV71624
Name: GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3
Condition: See cases [RCV000050614]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADA2   AIFM3   ARVCF   ATP6V1E1   BCL2L13   BID   C22orf39   CCDC188   CDC45   CECR2   CECR3   CECR7   CLDN5   CLTCL1   COMT   CRKL   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   ESS2   FAM230A   FAM230D   FAM230E   FAM230F   FAM230G   FAM230J   GAB4   GGTLC3   GNB1L   GP1BB   GSC2   HDHD5   HDHD5-AS1   HIRA   IL17RA   KLHL22   LINC00528   LINC00895   LINC00896   LINC01311   LINC01634   LINC01637   LINC01664   LRRC74B   LZTR1   MED15   MICAL3   MIR1286   MIR1306   MIR185   MIR3198-1   MIR3618   MIR4761   MIR648   MIR649   MIR6816   MRPL40   P2RX6   PEX26   PI4KA   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SCARF2   SEPTIN5   SERPIND1   SLC25A1   SLC25A18   SLC7A4   SNAP29   SNORA77B   TANGO2   TBX1   THAP7   THAP7-AS1   TMEM121B   TMEM191B   TRMT2A   TSSK2   TUBA8   TXNRD2   UFD1   USP18   USP41   ZDHHC8   ZNF74  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_16916608)_(21151128_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382216,916,608 - 21,151,128CLINVAR
GRCh372217,397,498 - 21,505,417CLINVAR
Build 362215,777,498 - 19,835,417CLINVAR
Cytogenetic Map2222q11.1-11.21CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617722
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


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