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Variant : CV73399 (GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3) Homo sapiens

Symbol: CV73399
Name: GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3
Condition: Global developmental delay [RCV000052593]|See cases [RCV000052593]
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: DPRX   MIR1283-1   MIR1283-2   MIR1323   MIR371A   MIR371B   MIR372   MIR373   MIR498   MIR512-1   MIR512-2   MIR515-1   MIR515-2   MIR516A1   MIR516A2   MIR516B1   MIR516B2   MIR517A   MIR517B   MIR517C   MIR518A1   MIR518A2   MIR518B   MIR518C   MIR518D   MIR518E   MIR518F   MIR519A1   MIR519A2   MIR519B   MIR519C   MIR519D   MIR519E   MIR520A   MIR520B   MIR520C   MIR520D   MIR520E   MIR520F   MIR520G   MIR520H   MIR521-1   MIR521-2   MIR522   MIR523   MIR524   MIR525   MIR526A1   MIR526A2   MIR526B   MIR527   MYADM   MYADM-AS1   NLRP12   PRKCG   ZNF331  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_53553042)_(53899466_?)dup
NC_000019.9:g.(?_54056296)_(54402720_?)dup
NC_000019.8:g.(?_58748108)_(59094532_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381953,553,042 - 53,899,466CLINVAR
GRCh371954,056,296 - 54,402,720CLINVAR
Build 361958,748,108 - 59,094,532CLINVAR
Cytogenetic Map1919q13.42CLINVAR
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: 8619569
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.