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Variant : CV154007 (GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1) Homo sapiens

Symbol: CV154007
Name: GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1
Condition: See cases [RCV000133738]
Clinical Significance: pathogenic
Last Evaluated: 06/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRG1   ADGRG3   ADGRG5   AMFR   ARL2BP   BBS2   CAPNS2   CCDC102A   CCDC113   CCL17   CCL22   CDH8   CES1   CES5A   CETP   CFAP20   CIAPIN1   CNGB1   CNOT1   COQ9   CPNE2   CSNK2A2   CX3CL1   DOK4   DRC7   GINS3   GNAO1   GOT2   HERPUD1   KATNB1   KIFC3   LINC02137   LINC02141   LPCAT2   MIR138-2   MIR3935   MIR6772   MIR6863   MMP15   MMP2   MMP2-AS1   MT1A   MT1B   MT1E   MT1F   MT1G   MT1H   MT1M   MT1X   MT2A   MT3   MT4   NDRG4   NLRC5   NPAP1L   NUDT21   NUP93   OGFOD1   PLLP   POLR2C   PRSS54   PSME3IP1   RSPRY1   SETD6   SLC12A3   SLC38A7   SLC6A2   SNORA46   SNORA50A   TEPP   TRL-CAG2-1   TRL-CAG2-2   USB1   ZNF319  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_55457477)_(63841622_?)del
NC_000016.9:g.(?_55491389)_(63875526_?)del
NC_000016.8:g.(?_54048890)_(62433027_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381655,457,477 - 63,841,622CLINVAR
GRCh371655,491,389 - 63,875,526CLINVAR
Build 361654,048,890 - 62,433,027CLINVAR
Cytogenetic Map1616q12.2-21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481323
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.