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Variant : CV73689 (GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3) Homo sapiens

Symbol: CV73689
Name: GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3
Condition: Nonsyndromic microcephaly [RCV000052891]|See cases [RCV000052891]
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: CDPF1   CELSR1   CERK   GRAMD4   GTSE1   GTSE1-DT   LINC00899   MIR3619   MIR4763   MIRLET7A3   MIRLET7B   MIRLET7BHG   PKDREJ   PPARA   PRR34   PRR34-AS1   TBC1D22A   TBC1D22A-AS1   TRMU   TTC38   WNT7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_45954698)_(47245325_?)dup
NC_000022.10:g.(?_46350578)_(47641075_?)dup
NC_000022.9:g.(?_44729242)_(46019739_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382245,954,698 - 47,245,325CLINVAR
GRCh372246,350,578 - 47,641,075CLINVAR
Build 362244,729,242 - 46,019,739CLINVAR
Cytogenetic Map2222q13.31CLINVAR
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: 8619861
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.