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Variant : CV43882 (GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3) Homo sapiens

Symbol: CV43882
Name: GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050316]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050316]|See cases [RCV000050316]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: CDPF1   CELSR1   CERK   GRAMD4   GTSE1   GTSE1-DT   PKDREJ   PPARA   TBC1D22A   TRMU   TTC38  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_46183346)_(46791748_?)dup
NC_000022.10:g.(?_46579243)_(47187645_?)dup
NC_000022.9:g.(?_44957907)_(45566309_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382246,183,346 - 46,791,748CLINVAR
GRCh372246,579,243 - 47,187,645CLINVAR
Build 362244,957,907 - 45,566,309CLINVAR
Cytogenetic Map2222q13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617583
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.