Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV555481 (GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1) Homo sapiens

Symbol: CV555481
Name: GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1
Condition: not provided [RCV000683786]
Clinical Significance: pathogenic
Last Evaluated: 09/06/2017
Review Status: no assertion criteria provided
Related Genes: APOBR   AQP8   ARHGAP17   ATP2A1   ATXN2L   C16orf82   CACNG3   CD19   CDR2   CHP2   CLN3   COG7   DCTN5   EARS2   EEF2K   EIF3C   EIF3CL   ERN2   GGA2   GSG1L   GTF3C1   HS3ST2   HS3ST4   IGSF6   IL21R   IL27   IL4R   KDM8   KIAA0556   LAT   LCMT1   METTL9   MOSMO   NDUFAB1   NFATC2IP   NPIPB3   NPIPB4   NPIPB5   NPIPB6   NSMCE1   NUPR1   OTOA   PALB2   PDZD9   PLK1   POLR3E   PRKCB   RABEP2   RBBP6   SBK1   SCNN1B   SCNN1G   SDR42E2   SGF29   SH2B1   SLC5A11   SPNS1   SULT1A1   SULT1A2   TNRC6A   TUFM   UBFD1   UQCRC2   USP31   VWA3A   XPO6   ZKSCAN2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371621,379,628 - 29,379,768CLINVAR
Cytogenetic Map1616p12.2-11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797853
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.