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Variant : CV159512 (GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1) Homo sapiens

Symbol: CV159512
Name: GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1
Condition: See cases [RCV000138723]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP11   ALG5   B3GLCT   BRCA2   CBY2   CCDC122   CCDC169   CCDC169-SOHLH2   CCNA1   COG3   COG6   CPB2   CPB2-AS1   CSNK1A1L   DCLK1   DGKH   DNAJC15   ELF1   ENOX1   ENOX1-AS2   EPSTI1   ERICH6B   ESD   EXOSC8   FAM216B   FOXO1   FREM2   FREM2-AS1   FRY   FRY-AS1   GPALPP1   GTF2F2   HSPH1   HTR2A   HTR2A-AS1   ITM2B   KBTBD6   KBTBD7   KCTD4   KL   LACC1   LCP1   LHFPL6   LINC00330   LINC00332   LINC00366   LINC00390   LINC00400   LINC00407   LINC00423   LINC00428   LINC00437   LINC00444   LINC00445   LINC00457   LINC00547   LINC00548   LINC00562   LINC00563   LINC00571   LINC00598   LINC01048   LINC01050   LINC01055   LINC01198   LINC02341   LINC02343   LINC02344   LPAR6   LRCH1   LRRC63   MAB21L1   MED4   MED4-AS1   MIR3168   MIR320D1   MIR4305   MIR5006   MIR621   MIR8079   MRPS31   MTRF1   N4BP2L1   N4BP2L2   N4BP2L2-IT2   NAA16   NBEA   NHLRC3   NRAD1   NUDT15   NUFIP1   PDS5B   POSTN   PROSER1   RB1   RB1-DT   RCBTB2   RFC3   RFXAP   RGCC   RUBCNL   RXFP2   SERP2   SERTM1   SIAH3   SLC25A15   SLC25A30   SLC25A30-AS1   SMAD9   SMIM2   SMIM2-AS1   SMIM2-IT1   SNORA31   SNORA31B   SOHLH2   SPART   SPART-AS1   STARD13   STARD13-AS   STOML3   SUCLA2   SUCLA2-AS1   SUPT20H   TNFSF11   TPT1   TPT1-AS1   TRE-TTC1-2   TRE-TTC2-1   TRPC4   TSC22D1   TSC22D1-AS1   TUSC8   UFM1   VWA8   VWA8-AS1   WBP4   ZAR1L   ZC3H13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_31018160)_(48491204_?)del
NC_000013.10:g.(?_31592297)_(49065340_?)del
NC_000013.9:g.(?_30490297)_(47963341_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381331,018,160 - 48,491,204CLINVAR
GRCh371331,592,297 - 49,065,340CLINVAR
Build 361330,490,297 - 47,963,341CLINVAR
Cytogenetic Map1313q12.3-14.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486260
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.