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Variant : CV73806 (GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1) Homo sapiens

Symbol: CV73806
Name: GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1
Condition: See cases [RCV000053027]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC007663.2   AIFM3   ARVCF   C22orf39   CCDC188   CDC45   CLDN5   CLTCL1   COMT   CRKL   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   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   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)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_18339130)_(21101267_?)del
Human AssemblyChrPosition (strand)Source
GRCh382218,339,130 - 21,101,267CLINVAR
GRCh372218,962,313 - 21,455,556CLINVAR
Build 362217,342,313 - 19,785,556CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619981
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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