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Variant : CV73860 (GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1) Homo sapiens

Symbol: CV73860
Name: GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1
Condition: Global developmental delay [RCV000053088]|See cases [RCV000053088]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARAF   CASK   CDK16   CFP   CHST7   DIPK2B   DUSP21   EFHC2   ELK1   FUNDC1   GPR34   GPR82   INE1   JADE3   KDM6A   KRBOX4   LINC01186   LINC01204   LINC01545   LINC01560   LINC02595   MAOA   MAOB   MIR221   MIR222   MIR4769   NDP   NDP-AS1   NDUFB11   NYX   PINCR   PPP1R2C   RBM10   RGN   RP2   SLC9A7   SNORA11C   SYN1   TIMP1   UBA1   USP11   UXT   UXT-AS1   ZNF157   ZNF41   ZNF674   ZNF674-AS1   ZNF81  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_41434043)_(47880733_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X41,434,043 - 47,880,733CLINVAR
GRCh37X41,293,296 - 47,619,970CLINVAR
Build 36X41,178,240 - 47,625,076CLINVAR
Cytogenetic MapXXp11.4-11.23CLINVAR
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
CRRD Object Information
CRRD ID: 8620036
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE


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