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Variant : CV154267 (GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1) Homo sapiens

Symbol: CV154267
Name: GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1
Condition: See cases [RCV000133998]
Clinical Significance: pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 08/20/2012
Review Status: classified by multiple submitters|no assertion criteria provided
Related Genes: ARVCF   C22orf39   CCDC188   CDC45   CLDN5   CLTCL1   COMT   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   ESS2   FAM230A   FAM230E   FAM230F   FAM230G   FAM230J   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   LINC00895   LINC00896   LINC01311   MIR1286   MIR1306   MIR185   MIR3618   MIR4761   MIR6816   MRPL40   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SEPTIN5   SLC25A1   SNORA77B   TANGO2   TBX1   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   ZDHHC8  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_18339130)_(20343532_?)del
Human AssemblyChrPosition (strand)Source
GRCh382218,339,130 - 20,343,532CLINVAR
GRCh372218,894,835 - 20,659,606CLINVAR
Build 362217,274,835 - 18,989,606CLINVAR
Cytogenetic Map2222q11.21CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9481583
Created: 2014-09-09
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.