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Variant : CV74004 (GRCh38/hg38 16p13.3(chr16:23141-1773349)x1) Homo sapiens

Symbol: CV74004
Name: GRCh38/hg38 16p13.3(chr16:23141-1773349)x1
Condition: Tetralogy of Fallot [RCV000053251]|See cases [RCV000053251]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANTKMT   ARHGDIG   AXIN1   BAIAP3   C16orf91   C1QTNF8   CACNA1H   CAPN15   CCDC154   CCDC78   CEROX1   CHTF18   CIAO3   CLCN7   CRAMP1   DECR2   EME2   FAM234A   FBXL16   GNG13   GNPTG   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   IFT140   JMJD8   JPT2   LINC00235   LMF1   LMF1-AS1   LUC7L   MAPK8IP3   MCRIP2   METRN   METTL26   MIR3176   MIR3177   MIR5587   MIR662   MPG   MRPL28   MRPS34   MSLN   NHLRC4   NME3   NME4   NPRL3   PDIA2   PERCC1   PGAP6   PIGQ   POLR3K   PRR25   PRR35   PTX4   RAB11FIP3   RAB40C   RGS11   RHBDF1   RHBDL1   RHOT2   RPUSD1   SNRNP25   SOX8   SSTR5   SSTR5-AS1   STUB1   TELO2   TMEM204   TPSAB1   TPSB2   TPSD1   TPSG1   TRG-CCC2-2   TSR3   UBE2I   UNKL   WASIR2   WDR24   WDR90   WFIKKN1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_23141)_(1773349_?)del
NC_000016.9:g.(?_73141)_(1823350_?)del
NC_000016.8:g.(?_13141)_(1763351_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381623,141 - 1,773,349CLINVAR
GRCh371673,141 - 1,823,350CLINVAR
Build 361613,141 - 1,763,351CLINVAR
Cytogenetic Map1616p13.3CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620188
Created: 2014-05-13
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.