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Variant : CV162456 (GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1) Homo sapiens

Symbol: CV162456
Name: GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1
Condition: See cases [RCV000141233]
Clinical Significance: pathogenic
Last Evaluated: 10/15/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AIFM3   ARVCF   BCR   C22orf39   CCDC116   CCDC188   CDC45   CLDN5   CLTCL1   COMT   CRKL   DGCR10   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   DGCR9   ESS2   FAM230A   FAM230B   FAM230E   FAM230F   FAM230G   FAM230H   FAM230I   FAM230J   GGT2   GGTLC2   GGTLC3   GNAZ   GNB1L   GP1BB   GSC2   HIC2   HIRA   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL5   IGLV1-36   IGLV1-40   IGLV1-44   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   IGLV2-11   IGLV2-14   IGLV2-18   IGLV2-23   IGLV2-33   IGLV2-8   IGLV3-1   IGLV3-10   IGLV3-12   IGLV3-16   IGLV3-19   IGLV3-21   IGLV3-22   IGLV3-25   IGLV3-27   IGLV3-32   IGLV3-9   IGLV4-3   IGLV4-60   IGLV4-69   IGLV5-37   IGLV5-45   IGLV5-48   IGLV5-52   IGLV6-57   IGLV7-43   IGLV7-46   IGLV8-61   IGLV9-49   KLHL22   LINC00895   LINC00896   LINC01311   LINC01637   LINC01651   LINC01659   LINC02556   LRRC74B   LZTR1   MAPK1   MED15   MIR1286   MIR1306   MIR130B   MIR185   MIR301B   MIR3618   MIR4761   MIR5571   MIR649   MIR650   MIR6816   MRPL40   P2RX6   PI4KA   PPIL2   PPM1F   PPM1F-AS1   PRAME   PRODH   RAB36   RANBP1   RIMBP3   RIMBP3B   RIMBP3C   RSPH14   RTL10   RTN4R   SCARF2   SDF2L1   SEPTIN5   SERPIND1   SLC25A1   SLC7A4   SNAP29   SNORA77B   TANGO2   TBX1   THAP7   THAP7-AS1   TMEM191B   TMEM191C   TOP3B   TRMT2A   TSSK2   TXNRD2   UBE2L3   UFD1   USP41   VPREB1   YDJC   YPEL1   ZDHHC8   ZNF280A   ZNF280B   ZNF74  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_18339130)_(23480799_?)del
NC_000022.10:g.(?_20279766)_(23822986_?)del
NC_000022.9:g.(?_18659766)_(22152986_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382218,339,130 - 23,480,799CLINVAR
GRCh372220,279,766 - 23,822,986CLINVAR
Build 362218,659,766 - 22,152,986CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488760
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.