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Variant : CV73655 (GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1) Homo sapiens

Symbol: CV73655
Name: GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1
Condition: Global developmental delay [RCV000052856]|See cases [RCV000052856]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AK3   CD274   CDC37L1   CDC37L1-DT   DMAC1   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   ERMP1   GLDC   GLIS3   GLIS3-AS1   IL33   INSL4   INSL6   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   LINC01230   LINC01231   LINC01235   LINC02851   LURAP1L   LURAP1L-AS1   MIR101-2   MIR4665   MLANA   MPDZ   PDCD1LG2   PLGRKT   PLPP6   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RCL1   RFX3   RFX3-AS1   RIC1   RLN1   RLN2   SLC1A1   SMARCA2   SNORD137   SPATA6L   TPD52L3   TYRP1   UHRF2   VLDLR   VLDLR-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_211087)_(13754567_?)del
Human AssemblyChrPosition (strand)Source
GRCh389211,087 - 13,754,567CLINVAR
GRCh379211,087 - 13,754,566CLINVAR
Build 369201,087 - 13,744,566CLINVAR
Cytogenetic Map99p24.3-23CLINVAR
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
RGD Object Information
RGD ID: 8619827
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.