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Variant : CV72653 (GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3) Homo sapiens

Symbol: CV72653
Name: GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3
Condition: Global developmental delay [RCV000051801]|See cases [RCV000051801]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADGRB2   AHDC1   ATP5IF1   CCDC28B   CD164L2   COL16A1   DCDC2B   DNAJC8   EIF3I   EPB41   EYA3   FABP3   FAM167B   FAM76A   FCN3   FGR   GMEB1   GPR3   HCRTR1   IFI6   IQCC   KHDRBS1   KPNA6   LAPTM5   LCK   LINC01226   LINC01648   LINC01715   LINC01756   LINC01778   LINC02574   MAP3K6   MATN1   MATN1-AS1   MECR   MED18   MIR4254   MIR4420   MIR5585   NKAIN1   OPRD1   PEF1   PHACTR4   PPP1R8   PTAFR   PTP4A2   PTPRU   PUM1   RAB42   RCC1   RNU11   RPA2   SCARNA1   SDC3   SERINC2   SESN2   SLC9A1   SMPDL3B   SNHG12   SNHG3   SNORA16A   SNORA44   SNORA61   SNORA73A   SNORA73B   SNORD103A   SNORD103B   SNORD103C   SNORD99   SNRNP40   SPOCD1   SRSF4   STX12   SYTL1   TAF12   TENT5B   THEMIS2   TINAGL1   TMEM200B   TMEM222   TMEM234   TMEM39B   TRNAU1AP   TRNP1   TXLNA   WASF2   WDTC1   XKR8   YTHDF2   ZCCHC17  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_26963045)_(32279045_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38126,963,045 - 32,279,045CLINVAR
GRCh37127,289,536 - 32,744,646CLINVAR
Build 36127,162,123 - 32,517,233CLINVAR
Cytogenetic Map11p36.11-35.2CLINVAR
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: 8618813
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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