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Variant : CV73873 (GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3) Homo sapiens

Symbol: CV73873
Name: GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103]
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   ARVCF   ATP6V1E1   BCL2L13   BID   C22orf39   CCDC188   CDC45   CECR2   CECR3   CECR7   CLDN5   CLTCL1   COMT   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   DVL1P1   ESS2   FAM230A   FAM230E   FAM230F   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   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)_(20343532_?)dup
NC_000022.10:g.(?_17397498)_(20402677_?)dup
NC_000022.9:g.(?_15777498)_(18782677_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382216,916,608 - 20,343,532CLINVAR
GRCh372217,397,498 - 20,402,677CLINVAR
Build 362215,777,498 - 18,782,677CLINVAR
Cytogenetic Map2222q11.1-11.21CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620051
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.