Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV72651 (GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3) Homo sapiens

Symbol: CV72651
Name: GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3
Condition: Global developmental delay [RCV000051799]|See cases [RCV000051799]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTL8   AGMAT   ARHGEF10L   ARHGEF19   ATP13A2   C1orf195   CASP9   CELA2A   CELA2B   CLCNKA   CLCNKB   CPLANE2   CROCC   CTRC   DDI2   DNAJC16   EFHD2   EPHA2   FAM131C   FBLIM1   FBXO42   FHAD1   FHAD1-AS1   HSPB7   IGSF21   IGSF21-AS1   KAZN   KAZN-AS1   LINC01654   LINC01772   LINC01783   LINC02783   MFAP2   MIR3675   MIR3972   MST1L   NBPF1   NECAP2   PADI1   PADI2   PADI3   PADI4   PADI6   PLEKHM2   PRDM2   RCC2   RNU1-1   RNU1-2   RNU1-3   RNU1-4   RSC1A1   SCARNA21B   SDHB   SLC25A34   SLC25A34-AS1   SPATA21   SPEN   SRARP   SZRD1   TMEM51   TMEM51-AS1   TMEM82   TRE-TTC3-1   TRE-TTC4-1   TRG-CCC1-1   TRG-CCC1-2   TRG-CCC4-1   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRN-GTT5-1   TRQ-CTG14-1   UQCRHL   ZBTB17  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_13619979)_(18466172_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38113,619,979 - 18,466,172CLINVAR
GRCh37113,946,474 - 18,792,666CLINVAR
Build 36113,819,061 - 18,665,253CLINVAR
Cytogenetic Map11p36.21-36.13CLINVAR
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: 8618811
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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