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Variant : CV72239 (GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1) Homo sapiens

Symbol: CV72239
Name: GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1
Condition: Global developmental delay [RCV000051379]|See cases [RCV000051379]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DCT   GPC5   GPC5-AS1   GPC5-AS2   GPC6   GPC6-AS1   GPC6-AS2   GPR180   LINC00331   LINC00333   LINC00351   LINC00353   LINC00363   LINC00373   LINC00375   LINC00377   LINC00379   LINC00380   LINC00382   LINC00397   LINC00410   LINC00430   LINC00433   LINC00440   LINC00559   LINC00560   LINC00564   LINC01038   LINC01040   LINC01047   LINC01049   LINC01068   LINC01080   LINC02336   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500   MIR4500HG   MIR548AS   MIR622   MIR92A1   NDFIP2   NDFIP2-AS1   OBI1   OBI1-AS1   POU4F1   RBM26   RBM26-AS1   SLITRK1   SLITRK5   SLITRK6   SNORA107   SPRY2   TGDS   TRF-GAA1-5  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_78349126)_(94701844_?)del
Human AssemblyChrPosition (strand)Source
GRCh381378,349,126 - 94,701,844CLINVAR
GRCh371378,923,261 - 95,354,098CLINVAR
Build 361377,821,262 - 94,152,099CLINVAR
Cytogenetic Map1313q22.3-32.1CLINVAR
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: 8618398
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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