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Variant : CV74134 (GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1) Homo sapiens

Symbol: CV74134
Name: GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1
Condition: Global developmental delay [RCV000053381]|See cases [RCV000053381]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSF3   ANKRD11   APRT   CBFA2T3   CDH15   CDT1   CTU2   GALNS   LINC00304   LINC02138   LOC100289580   LOC339059   MIR4722   MVD   PABPN1L   PIEZO1   RNF166   SLC22A31   SNAI3   SNAI3-AS1   TRAPPC2L   ZNF778  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_88662702)_(89454555_?)del
NC_000016.9:g.(?_88729110)_(89520963_?)del
NC_000016.8:g.(?_87256611)_(88048464_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381688,662,702 - 89,454,555CLINVAR
GRCh371688,729,110 - 89,520,963CLINVAR
Build 361687,256,611 - 88,048,464CLINVAR
Cytogenetic Map1616q24.2-24.3CLINVAR
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: 8620318
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.