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Variant : CV71822 (GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1) Homo sapiens

Symbol: CV71822
Name: GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1
Condition: Omphalocele [RCV000050891]|See cases [RCV000050891]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACOD1   ALG11   ARL11   ATP7B   ATXN8OS   BORA   C13orf42   CAB39L   CBY2   CCDC70   CDADC1   CKAP2   CLN5   CNMD   COG3   COMMD6   CPB2   CPB2-AS1   CYSLTR2   DACH1   DHRS12   DIAPH3   DIAPH3-AS1   DIAPH3-AS2   DIS3   DLEU1   DLEU1-AS1   DLEU2   DLEU7   DLEU7-AS1   EBPL   EDNRB   EDNRB-AS1   ERICH6B   ESD   FAM124A   FBXL3   FNDC3A   GPALPP1   GPC5   GPC5-AS1   GPC5-AS2   GTF2F2   HNRNPA1L2   HTR2A   HTR2A-AS1   INTS6   INTS6-AS1   ITM2B   KCNRG   KCTD12   KCTD4   KLF12   KLF5   KLHL1   KPNA3   LCP1   LINC00331   LINC00333   LINC00345   LINC00347   LINC00348   LINC00351   LINC00353   LINC00355   LINC00358   LINC00364   LINC00373   LINC00374   LINC00375   LINC00376   LINC00377   LINC00378   LINC00379   LINC00380   LINC00381   LINC00382   LINC00383   LINC00392   LINC00393   LINC00395   LINC00397   LINC00402   LINC00410   LINC00430   LINC00433   LINC00434   LINC00440   LINC00444   LINC00446   LINC00448   LINC00458   LINC00459   LINC00462   LINC00550   LINC00558   LINC00559   LINC00560   LINC00561   LINC00562   LINC00563   LINC00564   LINC01038   LINC01040   LINC01047   LINC01049   LINC01052   LINC01055   LINC01065   LINC01068   LINC01069   LINC01074   LINC01075   LINC01078   LINC01080   LINC01198   LINC01442   LINC02333   LINC02336   LINC02338   LINC02339   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   LPAR6   LRCH1   LRRC63   MED4   MED4-AS1   MIR1297   MIR15A   MIR16-1   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR3169   MIR3613   MIR3665   MIR4500   MIR4500HG   MIR4703   MIR4704   MIR5007   MIR548AS   MIR548X2   MIR5693   MIR622   MIR759   MIR92A1   MLNR   MYCBP2   MYCBP2-AS1   MZT1   NDFIP2   NDFIP2-AS1   NEK3   NEK5   NUDT15   NUFIP1   OBI1   OBI1-AS1   OLFM4   PCDH17   PCDH20   PCDH8   PCDH9   PCDH9-AS2   PCDH9-AS3   PCDH9-AS4   PHF11   PIBF1   POU4F1   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   RB1   RB1-DT   RBM26   RBM26-AS1   RCBTB1   RCBTB2   RNASEH2B   RNASEH2B-AS1   RUBCNL   SCEL   SCEL-AS1   SERPINE3   SETDB2   SIAH3   SLAIN1   SLC25A30   SLC25A30-AS1   SLITRK1   SLITRK5   SLITRK6   SNORA107   SNORA31   SNORA31B   SPRY2   SPRYD7   SUCLA2   SUCLA2-AS1   SUGT1   TBC1D4   TDRD3   THSD1   TMEM272   TPT1   TPT1-AS1   TRIM13   UCHL3   UTP14C   VPS36   WDFY2   ZC3H13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_44967523)_(92738168_?)del
NC_000013.10:g.(?_45541658)_(93390421_?)del
NC_000013.9:g.(?_44439658)_(92188422_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381344,967,523 - 92,738,168CLINVAR
GRCh371345,541,658 - 93,390,421CLINVAR
Build 361344,439,658 - 92,188,422CLINVAR
Cytogenetic Map1313q14.12-31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617954
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.