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Variant : CV162630 (GRCh38/hg38 16p13.3(chr16:59980-1221651)x1) Homo sapiens

Symbol: CV162630
Name: GRCh38/hg38 16p13.3(chr16:59980-1221651)x1
Condition: See cases [RCV000141384]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANTKMT   ARHGDIG   AXIN1   C1QTNF8   CACNA1H   CAPN15   CCDC78   CEROX1   CHTF18   CIAO3   DECR2   FAM234A   FBXL16   GNG13   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   JMJD8   LINC00235   LMF1   LMF1-AS1   LUC7L   MCRIP2   METRN   METTL26   MIR3176   MIR5587   MIR662   MPG   MRPL28   MSLN   NHLRC4   NME4   NPRL3   PDIA2   PGAP6   PIGQ   PRR25   PRR35   RAB11FIP3   RAB40C   RGS11   RHBDF1   RHBDL1   RHOT2   RPUSD1   SOX8   SSTR5   SSTR5-AS1   STUB1   TPSG1   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.(?_59980)_(1221651_?)del
NC_000016.9:g.(?_109978)_(1271651_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381659,980 - 1,221,651CLINVAR
GRCh3716109,978 - 1,271,651CLINVAR
Build 361649,978 - 1,211,652CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488909
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.