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Variant : CV161910 (GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1) Homo sapiens

Symbol: CV161910
Name: GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1
Condition: See cases [RCV000140788]
Clinical Significance: pathogenic
Last Evaluated: 03/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP11   ARL11   C13orf42   CAB39L   CBY2   CCDC122   CDADC1   COG3   COG6   CPB2   CPB2-AS1   CYSLTR2   DGKH   DLEU1   DLEU1-AS1   DLEU2   DLEU7   DLEU7-AS1   DNAJC15   EBPL   ELF1   ENOX1   ENOX1-AS2   EPSTI1   ERICH6B   ESD   FAM124A   FAM216B   FNDC3A   FOXO1   FREM2   FREM2-AS1   GPALPP1   GTF2F2   HTR2A   HTR2A-AS1   INTS6   ITM2B   KBTBD6   KBTBD7   KCNRG   KCTD4   KPNA3   LACC1   LCP1   LHFPL6   LINC00330   LINC00332   LINC00366   LINC00390   LINC00400   LINC00407   LINC00428   LINC00437   LINC00444   LINC00462   LINC00548   LINC00562   LINC00563   LINC00598   LINC01050   LINC01055   LINC01198   LINC02341   LPAR6   LRCH1   LRRC63   MED4   MED4-AS1   MIR15A   MIR16-1   MIR3168   MIR320D1   MIR3613   MIR4305   MIR5006   MIR5693   MIR621   MIR8079   MLNR   MRPS31   MTRF1   NAA16   NHLRC3   NRAD1   NUDT15   NUFIP1   PHF11   PROSER1   RB1   RB1-DT   RCBTB1   RCBTB2   RGCC   RNASEH2B   RNASEH2B-AS1   RUBCNL   SERP2   SERPINE3   SETDB2   SIAH3   SLC25A15   SLC25A30   SLC25A30-AS1   SMIM2   SMIM2-AS1   SMIM2-IT1   SNORA31   SNORA31B   SPRYD7   STOML3   SUCLA2   SUCLA2-AS1   TNFSF11   TPT1   TPT1-AS1   TRE-TTC1-2   TRE-TTC2-1   TRIM13   TSC22D1   TSC22D1-AS1   TUSC8   VWA8   VWA8-AS1   WBP4   ZC3H13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_38514177)_(51425214_?)del
NC_000013.10:g.(?_39088314)_(51999350_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381338,514,177 - 51,425,214CLINVAR
GRCh371339,088,314 - 51,999,350CLINVAR
Build 361337,986,314 - 50,897,351CLINVAR
Cytogenetic Map1313q13.3-14.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488316
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.