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Variant : CV74937 (GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1) Homo sapiens

Symbol: CV74937
Name: GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1
Condition: See cases [RCV000054220]
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   AC246817.1   AF067845.2   ARHGEF10   CLN8   CSMD1   DLGAP2   DLGAP2-AS1   ERICH1   FAM87A   FBXO25   KBTBD11   KBTBD11-OT1   LOC101927815   LOC105377777   LOC106783493   LOC114827837   MIR3674   MIR596   MIR7160   MYOM2   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_241530)_(3701826_?)del
Human AssemblyChrPosition (strand)Source
GRCh388241,530 - 3,701,826CLINVAR
GRCh378191,530 - 3,559,348CLINVAR
Build 368181,530 - 3,546,756CLINVAR
Cytogenetic Map88p23.3-23.2CLINVAR
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: 8621130
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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