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Variant : CV71685 (GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1) Homo sapiens

Symbol: CV71685
Name: GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1
Condition: Global developmental delay [RCV000050703]|See cases [RCV000050703]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AK4   ALG6   ANGPTL3   ANKRD13C   ATG4C   C1orf141   CACHD1   CTH   DEPDC1   DEPDC1-AS1   DIRAS3   DLEU2L   DNAJC6   DOCK7   EFCAB7   FOXD3   FOXD3-AS1   GADD45A   GNG12   GNG12-AS1   HHLA3   HHLA3-AS1   IL12RB2   IL23R   INSL5   ITGB3BP   JAK1   KANK4   L1TD1   LEPR   LEPROT   LINC00466   LINC01359   LINC01707   LINC01739   LINC01748   LINC01758   LINC01788   LINC02791   LRRC40   LRRC7   LRRC7-AS1   MIER1   MIR101-1   MIR12132   MIR1262   MIR3116-1   MIR3116-2   MIR3117   MIR3671   MIR4794   MIR6068   NFIA   NFIA-AS1   NFIA-AS2   PATJ   PDE4B   PDE4B-AS1   PGM1   PTGER3   RAVER2   ROR1   ROR1-AS1   RPE65   SERBP1   SGIP1   SLC35D1   SRSF11   TCTEX1D1   TM2D1   UBE2U   USP1   WDR78   WLS  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_60473800)_(70944955_?)del
NC_000001.10:g.(?_60939472)_(71410638_?)del
NC_000001.9:g.(?_60712060)_(71183226_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38160,473,800 - 70,944,955CLINVAR
GRCh37160,939,472 - 71,410,638CLINVAR
Build 36160,712,060 - 71,183,226CLINVAR
Cytogenetic Map11p32.1-31.1CLINVAR
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: 8617793
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.