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

Variant : CV74268 (GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1) Homo sapiens

Symbol: CV74268
Name: GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1
Condition: See cases [RCV000053525]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC022101.1   ACSL6   ACSL6-AS1   ADAMTS19   ADAMTS19-AS1   ALDH7A1   C5orf63   CCDC192   CDC42SE2   CEP120   CHSY3   CSF2   CSNK1G3   CTXN3   DMXL1   DTWD2   FAM170A   FBN2   FNIP1   FTMT   GRAMD2B   HINT1   HSD17B4   IL13   IL3   IL4   IL5   IRF1   IRF1-AS1   ISOC1   LINC00992   LINC01170   LINC01184   LINC02039   LINC02147   LINC02148   LINC02201   LINC02208   LINC02214   LINC02215   LINC02216   LINC02240   LINC02863   LMNB1   LMNB1-DT   LOX   LYRM7   MARCHF3   MEGF10   MEIKIN   MINAR2   MIR1244-2   MIR3936   MIR3936HG   MIR4460   MIR4633   MIR5706   MIR6830   P4HA2   P4HA2-AS1   PDLIM4   PHAX   PPIC   PRDM6   PRR16   PRRC1   RAD50   RAPGEF6   SLC12A2   SLC22A4   SLC22A5   SLC27A6   SNCAIP   SNX2   SNX24   SRFBP1   TEX43   TH2LCRR   TNFAIP8   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_116677122)_(132686163_?)del
Human AssemblyChrPosition (strand)Source
GRCh385116,677,122 - 132,686,163CLINVAR
GRCh375116,012,818 - 132,021,855CLINVAR
Build 365116,040,717 - 132,049,754CLINVAR
Cytogenetic Map55q23.1-31.1CLINVAR
Age Of Onset: neonatal/infancy
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: 8620454
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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