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Variant : CV73335 (GRCh38/hg38 Xq28(chrX:153769547-154394658)x2) Homo sapiens

Symbol: CV73335
Name: GRCh38/hg38 Xq28(chrX:153769547-154394658)x2
Condition: Global developmental delay [RCV000052525]|Macrocephaly [RCV000052526]|See cases [RCV000052525]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGAP4   AVPR2   EMD   FLNA   HCFC1   HCFC1-AS1   IDH3G   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PDZD4   PLXNB3   RENBP   SRPK3   SSR4   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153769547)_(154394658_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X153,769,547 - 154,394,658CLINVAR
Build 36X152,688,196 - 153,276,194CLINVAR
Cytogenetic MapXXq28CLINVAR
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: 8619503
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


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