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Variant : CV72435 (GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1) Homo sapiens

Symbol: CV72435
Name: GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1
Condition: See cases [RCV000051580]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADSS1   AKT1   AMN   ASPG   ATP5MPL   BAG5   C14orf180   CDC42BPB   CEP170B   CKB   COA8   EIF5   EXOC3L4   INF2   KIF26A   KLC1   LBHD2   LINC00605   LINC00637   LINC00638   LINC00677   LINC02280   LINC02691   MARK3   MIR12121   MIR203A   MIR203B   MIR4710   PPP1R13B   RCOR1   RD3L   SIVA1   SNORA28   TDRD9   TMEM179   TNFAIP2   TRAF3   TRMT61A   XRCC3   ZBTB42   ZFYVE21  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_102584963)_(104898605_?)del
Human AssemblyChrPosition (strand)Source
GRCh3814102,584,963 - 104,898,605CLINVAR
GRCh3714103,051,300 - 105,364,942CLINVAR
Build 3614102,121,053 - 104,435,987CLINVAR
Cytogenetic Map1414q32.31-32.33CLINVAR
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: 8618595
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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