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Variant : CV73920 (GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3) Homo sapiens

Symbol: CV73920
Name: GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC116   FAM230B   GGT2   HIC2   IGL   IGLV1-36   IGLV1-40   IGLV1-44   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   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   PRAME   PRAMENP   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.(?_21150869)_(22562804_?)dup
NC_000022.10:g.(?_21505158)_(22905209_?)dup
NC_000022.9:g.(?_19835158)_(21235209_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382221,150,869 - 22,562,804CLINVAR
GRCh372221,505,158 - 22,905,209CLINVAR
Build 362219,835,158 - 21,235,209CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620098
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.