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Variant : CV72238 (GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1) Homo sapiens

Symbol: CV72238
Name: GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1
Condition: Global developmental delay [RCV000051378]|See cases [RCV000051378]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARL11   CAB39L   CBY2   CCDC122   CDADC1   COG3   CPB2   CPB2-AS1   CYSLTR2   DLEU2   EBPL   ENOX1   ERICH6B   ESD   FNDC3A   GPALPP1   GTF2F2   HTR2A   HTR2A-AS1   ITM2B   KCTD4   KPNA3   LACC1   LCP1   LINC00330   LINC00390   LINC00407   LINC00444   LINC00462   LINC00562   LINC00563   LINC01055   LINC01198   LPAR6   LRCH1   LRRC63   MED4   MED4-AS1   MIR8079   MLNR   NRAD1   NUDT15   NUFIP1   PHF11   RB1   RB1-DT   RCBTB1   RCBTB2   RUBCNL   SERP2   SETDB2   SIAH3   SLC25A30   SLC25A30-AS1   SMIM2   SMIM2-AS1   SMIM2-IT1   SNORA31   SNORA31B   SPRYD7   SUCLA2   SUCLA2-AS1   TPT1   TPT1-AS1   TRE-TTC2-1   TSC22D1   TSC22D1-AS1   TUSC8   ZC3H13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_43505396)_(49983668_?)del
NC_000013.10:g.(?_44079532)_(50557804_?)del
NC_000013.9:g.(?_42977532)_(49455805_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381343,505,396 - 49,983,668CLINVAR
GRCh371344,079,532 - 50,557,804CLINVAR
Build 361342,977,532 - 49,455,805CLINVAR
Cytogenetic Map1313q14.11-14.2CLINVAR
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: 8618397
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.