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Variant : CV73802 (GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1) Homo sapiens

Symbol: CV73802
Name: GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1
Condition: Global developmental delay [RCV000053015]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053016]|Global developmental delay [RCV000053017]|Global developmental delay [RCV000053018]|Polydactyly [RCV000053019]|Irido-corneo-trabecular dysgenesis [RCV000053020]|Abnormality of the heart [RCV000053021]|Pulmonic stenosis [RCV000053022]|Talipes equinovarus [RCV000053023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053016]|See cases [RCV000053015]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AIFM3   ARVCF   C22orf39   CCDC188   CDC45   CLDN5   CLTCL1   COMT   CRKL   DGCR10   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   DGCR9   ESS2   FAM230A   FAM230E   FAM230F   FAM230G   FAM230J   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   KLHL22   LINC00895   LINC00896   LINC01311   LINC01637   LRRC74B   LZTR1   MED15   MIR1286   MIR1306   MIR185   MIR3618   MIR4761   MIR649   MIR6816   MRPL40   P2RX6   PI4KA   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SCARF2   SEPTIN5   SERPIND1   SLC25A1   SLC7A4   SNAP29   SNORA77B   TANGO2   TBX1   THAP7   THAP7-AS1   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   USP41   ZDHHC8   ZNF74  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_18339130)_(21101267_?)del
NC_000022.10:g.(?_18938161)_(21455556_?)del
NC_000022.9:g.(?_17318161)_(19785556_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382218,339,130 - 21,101,267CLINVAR
GRCh372218,938,161 - 21,455,556CLINVAR
Build 362217,318,161 - 19,785,556CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.|<1 / 1 000 000|1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619977
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.