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Variant : CV72274 (GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1) Homo sapiens

Symbol: CV72274
Name: GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1
Condition: Global developmental delay [RCV000051417]|See cases [RCV000051417]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC4   CLDN10   CLDN10-AS1   DCT   DNAJC3   DNAJC3-DT   DZIP1   GPC5   GPC5-AS1   GPC5-AS2   GPC6   GPC6-AS1   GPC6-AS2   GPR180   HS6ST3   LINC00353   LINC00363   LINC00379   LINC00380   LINC00410   LINC00557   LINC00559   LINC01049   LINC02336   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4501   MIR548AS   MIR622   MIR92A1   SNORD13G   SOX21   SOX21-AS1   TGDS   TRF-GAA1-5   UGGT2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_89549510)_(96657834_?)del
Human AssemblyChrPosition (strand)Source
GRCh381389,549,510 - 96,657,834CLINVAR
GRCh371390,201,764 - 97,310,088CLINVAR
Build 361388,999,765 - 96,108,089CLINVAR
Cytogenetic Map1313q31.3-32.1CLINVAR
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: 8618434
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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