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Variant : CV72902 (GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3) Homo sapiens

Symbol: CV72902
Name: GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052059]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052059]|See cases [RCV000052059]
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: ABHD12B   ATL1   CDKL1   DMAC2L   FRMD6   FRMD6-AS1   FRMD6-AS2   L2HGDH   LINC00519   LINC00640   LINC01599   LINC02310   MAP4K5   MIR4504   NIN   PYGL   SAV1   SOS2   TMX1   TRIM9   VCPKMT  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_50091150)_(51777325_?)dup
NC_000014.8:g.(?_50557868)_(52244043_?)dup
NC_000014.7:g.(?_49627618)_(51313793_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381450,091,150 - 51,777,325CLINVAR
GRCh371450,557,868 - 52,244,043CLINVAR
Build 361449,627,618 - 51,313,793CLINVAR
Cytogenetic Map1414q21.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619064
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.