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Variant : CV162356 (GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3) Homo sapiens

Symbol: CV162356
Name: GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3
Condition: See cases [RCV000141141]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AHSP   ALDOA   APOBR   AQP8   ARHGAP17   ARMC5   ASPHD1   ATP2A1   ATP2A1-AS1   ATXN2L   BCKDK   BCL7C   BOLA2   BOLA2-SMG1P6   BOLA2B   C16orf54   C16orf58   C16orf82   C16orf92   CACNG3   CCDC189   CD19   CD2BP2   CD2BP2-DT   CDIPT   CDIPTOSP   CHP2   CLN3   CORO1A   COX6A2   CTF1   DCTPP1   DOC2A   EIF3C   EIF3CL   FBRS   FBXL19   FBXL19-AS1   FUS   GDPD3   GSG1L   GTF3C1   HIRIP3   HS3ST4   HSD3B7   IL21R   IL21R-AS1   IL27   IL4R   INO80E   ITGAD   ITGAL   ITGAM   ITGAX   KAT8   KCTD13   KDM8   KIAA0556   KIF22   LAT   LCMT1   LCMT1-AS1   LCMT1-AS2   LINC01567   LINC02129   LINC02175   LINC02190   LINC02191   LINC02195   LINC2194   MAPK3   MAZ   MIR1273H   MIR3680-2   MIR4517   MIR4518   MIR4519   MIR4721   MIR548W   MIR6862-1   MIR6862-2   MIR762   MIR762HG   MVP   MYLPF   NFATC2IP   NPIPB11   NPIPB12   NPIPB13   NPIPB6   NPIPB8   NPIPB9   NSMCE1   NSMCE1-DT   NUPR1   ORAI3   PAGR1   PHKG2   PPP4C   PRKCB   PRR14   PRRT2   PRSS36   PRSS53   PRSS8   PYCARD   PYCARD-AS1   PYDC1   QPRT   RABEP2   RBBP6   RNF40   SBK1   SEPHS2   SEPTIN1   SETD1A   SEZ6L2   SGF29   SH2B1   SLC5A11   SLC5A2   SLX1A   SLX1A-SULT1A3   SLX1B   SLX1B-SULT1A4   SNORA30   SNORA80C   SPN   SPNS1   SRCAP   STX1B   STX4   SULT1A1   SULT1A2   SULT1A3   SULT1A4   TAOK2   TBC1D10B   TBX6   TGFB1I1   TLCD3B   TMEM219   TMEM265   TNRC6A   TRIM72   TUFM   VKORC1   VN1R3   XPO6   YPEL3   ZG16   ZKSCAN2   ZNF267   ZNF48   ZNF629   ZNF646   ZNF668   ZNF688   ZNF689   ZNF720   ZNF747   ZNF764   ZNF768   ZNF771   ZNF785   ZNF843  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_23752047)_(31943755_?)dup
NC_000016.9:g.(?_23763368)_(31955076_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381623,752,047 - 31,943,755CLINVAR
GRCh371623,763,368 - 31,955,076CLINVAR
Build 361623,670,869 - 31,862,577CLINVAR
Cytogenetic Map1616p12.2-11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488668
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.