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Variant : CV382494 (GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3) Homo sapiens

Symbol: CV382494
Name: GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3
Condition: See cases [RCV000449403]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACSM1   ACSM2A   ACSM2B   ACSM3   ACSM5   ALDOA   ANKS4B   APOBR   AQP8   ARHGAP17   ASPHD1   ATP2A1   ATXN2L   BOLA2   C16orf54   C16orf82   C16orf92   CACNG3   CCP110   CD19   CDIPT   CDR2   CHP2   CLN3   COG7   CRYM   DCTN5   DCUN1D3   DNAH3   DOC2A   EARS2   EEF2K   EIF3C   EIF3CL   ERI2   ERN2   GDE1   GDPD3   GGA2   GP2   GPR139   GPRC5B   GSG1L   GTF3C1   HIRIP3   HS3ST2   HS3ST4   IGSF6   IL21R   IL27   IL4R   INO80E   IQCK   KCTD13   KDM8   KIAA0556   KIF22   KNOP1   LAT   LCMT1   LYRM1   MAPK3   MAZ   METTL9   MOSMO   MVP   NDUFAB1   NFATC2IP   NPIPB3   NPIPB4   NPIPB5   NPIPB6   NSMCE1   NUPR1   OTOA   PAGR1   PALB2   PDILT   PDZD9   PLK1   POLR3E   PPP4C   PRKCB   PRRT2   QPRT   RABEP2   RBBP6   SBK1   SCNN1B   SCNN1G   SDR42E2   SEZ6L2   SGF29   SH2B1   SLC5A11   SLX1B   SPN   SPNS1   SULT1A1   SULT1A2   SULT1A4   TAOK2   TBX6   THUMPD1   TLCD3B   TMC5   TMEM159   TMEM219   TNRC6A   TUFM   UBFD1   UMOD   UQCRC2   USP31   VPS35L   VWA3A   XPO6   YPEL3   ZG16   ZKSCAN2   ZP2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371619,424,115 - 30,142,220CLINVAR
Cytogenetic Map1616p12.3-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12854099
Created: 2017-04-11
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.