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Variant : CV74479 (GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1) Homo sapiens

Symbol: CV74479
Name: GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1
Condition: Global developmental delay [RCV000053755]|See cases [RCV000053755]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGTRAP   ANGPTL7   C1orf127   C1orf158   C1orf167   C1orf167-AS1   CA6   CAMTA1   CAMTA1-AS1   CAMTA1-AS2   CAMTA1-IT1   CASZ1   CENPS   CENPS-CORT   CLCN6   CLSTN1   CORT   CTNNBIP1   DFFA   DHRS3   DISP3   DRAXIN   ENO1   ENO1-AS1   ERRFI1   EXOSC10   EXOSC10-AS1   FBXO2   FBXO44   FBXO6   GPR157   H6PD   HNRNPCL1   HNRNPCL3   KIAA2013   KIF1B   LINC01647   LINC01714   LINC01784   LINC02606   LINC02766   LNCTAM34A   LZIC   MAD2L2   MASP2   MFN2   MIIP   MIR34A   MIR34AHG   MIR4632   MIR5697   MIR6728   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NMNAT1   NPPA   NPPA-AS1   NPPB   PARK7   PER3   PEX14   PGD   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   PLOD1   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF2   PRAMEF25   PRAMEF27   PRAMEF4   PRAMEF6   PRAMEF7   RBP7   RERE   RERE-AS1   RNU5E-1   SLC25A33   SLC2A5   SLC2A7   SLC45A1   SNORA59A   SNORD128   SPSB1   SRM   TARDBP   TMEM201   TNFRSF1B   TNFRSF8   TNFRSF9   UBE4B   UBIAD1   UTS2   VAMP3   VPS13D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_7165036)_(13111056_?)del
Human AssemblyChrPosition (strand)Source
GRCh3817,165,036 - 13,111,056CLINVAR
GRCh3717,225,096 - 13,178,528CLINVAR
Build 3617,147,683 - 13,101,115CLINVAR
Cytogenetic Map11p36.23-36.21CLINVAR
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: 8620670
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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