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Variant : CV74923 (GRCh38/hg38 8p23.3(chr8:202100-2017223)x1) Homo sapiens

Symbol: CV74923
Name: GRCh38/hg38 8p23.3(chr8:202100-2017223)x1
Condition: See cases [RCV000054204]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC019257.1   AC100797.4   AC100810.1   AF067845.2   ARHGEF10   CLN8   DLGAP2   DLGAP2-AS1   ERICH1   FAM87A   FBXO25   KBTBD11   KBTBD11-OT1   LOC105377777   LOC106783493   MIR3674   MIR596   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_202100)_(2017223_?)del
NC_000008.10:g.(?_152100)_(1965389_?)del
NC_000008.9:g.(?_142100)_(2111713_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388202,100 - 2,017,223CLINVAR
GRCh378152,100 - 1,965,389CLINVAR
Build 368142,100 - 2,111,713CLINVAR
Cytogenetic Map88p23.3CLINVAR
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
 
RGD Object Information
RGD ID: 8621115
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.