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Variant : CV161388 (GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3) Homo sapiens

Symbol: CV161388
Name: GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3
Condition: See cases [RCV000140341]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC093249.6   ALDOA   ALDOA   APOBR   ASPHD1   ATP2A1   ATP2A1-AS1   ATXN2L   BCKDK   BCL7C   BOLA2   BOLA2-SMG1P6   BOLA2B   C16orf54   C16orf92   CCDC189   CD19   CD2BP2   CD2BP2-DT   CDIPT   CDIPTOSP   CLN3   CORO1A   CTF1   DCTPP1   DOC2A   EIF3C   EIF3CL   FBRS   FBXL19   FBXL19-AS1   FUS   GDPD3   GSG1L   GTF3C1   HIRIP3   HSD3B7   IL21R   IL21R-AS1   IL27   IL4R   INO80E   ITGAL   KAT8   KATNIP   KCTD13   KIF22   LAT   LOC100128079   LOC101928595   LOC108281183   LOC112340392   LOC112340393   LOC112352679   LOC112352680   LOC112352681   LOC112441444   LOC112441445   LOC112441446   LOC116276452   MAPK3   MAZ   MIR3680-2   MIR4517   MIR4518   MIR4519   MIR4721   MIR6862-1   MIR6862-2   MIR762   MIR762HG   MVP   MYLPF   NFATC2IP   NPIPB11   NPIPB12   NPIPB13   NPIPB6   NPIPB8   NPIPB9   NUPR1   ORAI3   PAGR1   PHKG2   PPP4C   PRR14   PRRT2   PRSS36   PRSS53   PRSS8   QPRT   RABEP2   RNF40   SBK1   SEPHS2   SEPTIN1   SETD1A   SEZ6L2   SGF29   SH2B1   SLX1A   SLX1A-SULT1A3   SLX1B   SLX1B-SULT1A4   SNORA30   SNORA80C   SPN   SPNS1   SRCAP   STX1B   STX4   SULT1A1   SULT1A2   SULT1A3   SULT1A4   TAOK2   TBC1D10B   TBX6   TLCD3B   TMEM219   TMEM265   TUFM   VKORC1   XPO6   YPEL3   ZG16   ZNF48   ZNF629   ZNF646   ZNF668   ZNF688   ZNF689   ZNF747   ZNF764   ZNF768   ZNF771   ZNF785  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_27311746)_(31193406_?)dup
NC_000016.9:g.(?_27323067)_(31204727_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381627,311,746 - 31,193,406CLINVAR
GRCh371627,323,067 - 31,204,727CLINVAR
Build 361627,230,568 - 31,112,228CLINVAR
Cytogenetic Map1616p12.1-11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487871
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
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.