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Variant : CV73923 (GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3) Homo sapiens

Symbol: CV73923
Name: GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3
Condition: Hirschsprung's disease [RCV000053160]|See cases [RCV000053160]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 02/05/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC116   GGTLC2   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   MAPK1   MIR130B   MIR301B   PPIL2   PPM1F   PPM1F-AS1   PRAME   SDF2L1   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_21623411)_(22651271_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382221,623,411 - 22,651,271CLINVAR
GRCh372221,977,700 - 22,993,741CLINVAR
Build 362220,307,700 - 21,323,741CLINVAR
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
CRRD Object Information
CRRD ID: 8620101
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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