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Variant : CV71943 (GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1) Homo sapiens

Symbol: CV71943
Name: GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|See cases [RCV000051035]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   DGCR2   DGCR6L   DGCR8   DVL1P1   ESS2   FAM230A   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   MRPL40   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SEPTIN5   SLC25A1   TANGO2   TBX1   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   ZDHHC8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_18339130)_(20354644_?)del
NC_000022.10:g.(?_18919942)_(20708934_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382218,339,130 - 20,354,644CLINVAR
GRCh372218,919,942 - 20,708,934CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8618085
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
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.