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Variant : CV72809 (GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3) Homo sapiens

Symbol: CV72809
Name: GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3
Condition: See cases [RCV000051961]
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   CCDC116   CRKL   FAM230B   FAM230H   GGT2   HIC2   IGL   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   IGLV4-60   IGLV4-69   IGLV5-48   IGLV5-52   IGLV6-57   IGLV8-61   IGLV9-49   LINC01637   LINC01651   LOC110121474   LOC112694767   LOC112694768   LRRC74B   LZTR1   MAPK1   MIR130B   MIR301B   MIR649   P2RX6   PI4KA   PPIL2   PPM1F   PPM1F-AS1   RIMBP3B   RIMBP3C   SDF2L1   SERPIND1   SLC7A4   SNAP29   THAP7   THAP7-AS1   TMEM191C   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_20668552)_(22358488_?)dup
NC_000022.10:g.(?_21022840)_(22712836_?)dup
NC_000022.9:g.(?_19352840)_(21042836_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382220,668,552 - 22,358,488CLINVAR
GRCh372221,022,840 - 22,712,836CLINVAR
Build 362219,352,840 - 21,042,836CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR
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: 8618970
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.