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Variant : CV74020 (GRCh38/hg38 16p13.3(chr16:105429-1499893)x1) Homo sapiens

Symbol: CV74020
Name: GRCh38/hg38 16p13.3(chr16:105429-1499893)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053267]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053267]|See cases [RCV000053267]
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   DECR2   FAM234A   FBXL16   GNG13   GNPTG   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   JMJD8   LINC00235   LMF1   LMF1-AS1   LUC7L   MCRIP2   METRN   METTL26   MIR3176   MIR5587   MIR662   MRPL28   MSLN   NHLRC4   NME4   NPRL3   PDIA2   PERCC1   PGAP6   PIGQ   PRR25   PRR35   PTX4   RAB11FIP3   RAB40C   RGS11   RHBDL1   RHOT2   RPUSD1   SOX8   SSTR5   SSTR5-AS1   STUB1   TELO2   TPSAB1   TPSB2   TPSD1   TPSG1   TRG-CCC2-2   TSR3   UBE2I   UNKL   WDR24   WDR90   WFIKKN1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_105429)_(1499893_?)del
NC_000016.9:g.(?_155427)_(1549894_?)del
NC_000016.8:g.(?_95427)_(1489895_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3816105,429 - 1,499,893CLINVAR
GRCh3716155,427 - 1,549,894CLINVAR
Build 361695,427 - 1,489,895CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620204
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.