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Variant : CV158170 (GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3) Homo sapiens

Symbol: CV158170
Name: GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3
Condition: See cases [RCV000137493]
Clinical Significance: uncertain significance
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC116   FAM230B   FAM230H   GGT2   HIC2   IGL   IGLV1-36   IGLV1-40   IGLV1-44   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   IGLV2-33   IGLV3-32   IGLV4-60   IGLV4-69   IGLV5-37   IGLV5-45   IGLV5-48   IGLV5-52   IGLV6-57   IGLV7-43   IGLV7-46   IGLV8-61   IGLV9-49   LINC01651   MAPK1   MIR130B   MIR301B   PPIL2   PPM1F   PPM1F-AS1   PRAME   RIMBP3B   RIMBP3C   SDF2L1   TMEM191C   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_21151069)_(22617194_?)dup
NC_000022.10:g.(?_21505358)_(22959664_?)dup
NC_000022.9:g.(?_19835358)_(21289664_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382221,151,069 - 22,617,194CLINVAR
GRCh372221,505,358 - 22,959,664CLINVAR
Build 362219,835,358 - 21,289,664CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485048
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.