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Variant : CV158668 (GRCh38/hg38 16p13.3(chr16:46766-882211)x1) Homo sapiens

Symbol: CV158668
Name: GRCh38/hg38 16p13.3(chr16:46766-882211)x1
Condition: See cases [RCV000137979]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 12/02/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANTKMT   ARHGDIG   AXIN1   CAPN15   CCDC78   CHTF18   CIAO3   DECR2   FAM234A   FBXL16   GNG13   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   JMJD8   LINC00235   LMF1   LUC7L   MCRIP2   METRN   METTL26   MIR3176   MIR5587   MIR662   MPG   MRPL28   MSLN   NHLRC4   NME4   NPRL3   PDIA2   PGAP6   PIGQ   POLR3K   PRR25   PRR35   RAB11FIP3   RAB40C   RGS11   RHBDF1   RHBDL1   RHOT2   RPUSD1   SNRNP25   STUB1   TRG-CCC2-2   WDR24   WDR90   WFIKKN1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_46766)_(882211_?)del
NC_000016.9:g.(?_96766)_(932211_?)del
NC_000016.8:g.(?_36766)_(872212_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381646,766 - 882,211CLINVAR
GRCh371696,766 - 932,211CLINVAR
Build 361636,766 - 872,212CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485528
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.