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Variant : CV73940 (GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3) Homo sapiens

Symbol: CV73940
Name: GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181]
Clinical Significance: uncertain significance
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADORA2A   ADORA2A-AS1   BCRP3   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   FAM230I   GGT1   GGT5   GSTT2   GSTT2B   GUCD1   IGLL1   LINC01659   LINC02557   LRRC75B   MIF   MIF-AS1   MMP11   PCAT14   RGL4   SLC2A11   SMARCB1   SNRPD3   SPECC1L   SPECC1L-ADORA2A   SUSD2   UPB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_23377984)_(24669609_?)dup
NC_000022.10:g.(?_23720171)_(25065576_?)dup
NC_000022.9:g.(?_22050171)_(23395576_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382223,377,984 - 24,669,609CLINVAR
GRCh372223,720,171 - 25,065,576CLINVAR
Build 362222,050,171 - 23,395,576CLINVAR
Cytogenetic Map2222q11.23CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620120
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.