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Variant : CV163821 (GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1) Homo sapiens

Symbol: CV163821
Name: GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1
Condition: See cases [RCV000142223]
Clinical Significance: pathogenic
Last Evaluated: 12/03/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALG11   ARL11   ATP7B   C13orf42   CAB39L   CCDC70   CDADC1   CKAP2   CNMD   CYSLTR2   DHRS12   DIAPH3   DIAPH3-AS1   DIAPH3-AS2   DLEU1   DLEU1-AS1   DLEU2   DLEU7   DLEU7-AS1   EBPL   FAM124A   FNDC3A   HNRNPA1L2   INTS6   INTS6-AS1   ITM2B   KCNRG   KPNA3   LINC00345   LINC00358   LINC00374   LINC00378   LINC00434   LINC00444   LINC00458   LINC00462   LINC00558   LINC00562   LINC01065   LINC01442   LINC02333   LINC02338   LINC02339   LPAR6   MED4   MED4-AS1   MIR1297   MIR15A   MIR16-1   MIR3169   MIR3613   MIR4703   MIR5007   MIR5693   MIR759   MLNR   NEK3   NEK5   NUDT15   OLFM4   PCDH17   PCDH20   PCDH8   PHF11   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   RB1   RB1-DT   RCBTB1   RCBTB2   RNASEH2B   RNASEH2B-AS1   SERPINE3   SETDB2   SPRYD7   SUCLA2   SUCLA2-AS1   SUGT1   TDRD3   THSD1   TMEM272   TRIM13   UTP14C   VPS36   WDFY2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_47765202)_(62058520_?)del
NC_000013.10:g.(?_48339337)_(62632653_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381347,765,202 - 62,058,520CLINVAR
GRCh371348,339,337 - 62,632,653CLINVAR
Build 361347,237,338 - 61,530,654CLINVAR
Cytogenetic Map1313q14.2-21.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489742
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.