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Variant : CV157488 (GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1) Homo sapiens

Symbol: CV157488
Name: GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1
Condition: See cases [RCV000136889]
Clinical Significance: pathogenic
Last Evaluated: 10/19/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AIFM3   BCR   C22orf15   CABIN1   CCDC116   CHCHD10   CRKL   DDT   DDTL   DERL3   DRICH1   FAM230B   FAM230H   FAM230I   GGT2   GGTLC2   GNAZ   GSTT2   GSTT2B   GSTT4   HIC2   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL1   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   LINC01637   LINC01651   LINC01659   LINC02556   LINC02557   LRRC74B   LZTR1   MAPK1   MIF   MIF-AS1   MIR130B   MIR301B   MIR5571   MIR649   MIR650   MMP11   P2RX6   PCAT14   PI4KA   PPIL2   PPM1F   PPM1F-AS1   PRAME   RAB36   RGL4   RIMBP3B   RIMBP3C   RSPH14   SDF2L1   SERPIND1   SLC2A11   SLC7A4   SMARCB1   SNAP29   SUSD2   THAP7   THAP7-AS1   TMEM191C   TOP3B   UBE2L3   VPREB1   VPREB3   YDJC   YPEL1   ZNF280A   ZNF280B   ZNF70  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_20726972)_(24197852_?)del
NC_000022.10:g.(?_21081260)_(24593820_?)del
NC_000022.9:g.(?_19411260)_(22923820_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382220,726,972 - 24,197,852CLINVAR
GRCh372221,081,260 - 24,593,820CLINVAR
Build 362219,411,260 - 22,923,820CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484450
Created: 2014-09-09
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.