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Variant : CV160910 (GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3) Homo sapiens

Symbol: CV160910
Name: GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3
Condition: See cases [RCV000139902]
Clinical Significance: pathogenic
Last Evaluated: 03/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM15   ADAR   ARHGEF11   ARHGEF2   ASH1L   ASH1L-AS1   BCAN   BGLAP   C1orf61   CCT3   CHRNB2   CKS1B   CLK2   CRABP2   DAP3   DCST1   DCST1-AS1   DCST2   DPM3   EFNA1   EFNA3   EFNA4   ETV3   ETV3L   FAM189B   FCRL4   FCRL5   FDPS   FLAD1   GBA   GLMP   GON4L   GPATCH4   HAPLN2   HCN3   HDGF   INSRR   IQGAP3   ISG20L2   KCNN3   KHDC4   KRTCAP2   LAMTOR2   LENEP   LMNA   LRRC71   MEF2D   MEX3A   MIR4258   MIR555   MIR6738   MIR765   MIR9-1   MIR92B   MRPL24   MSTO1   MTX1   MUC1   NAXE   NES   NTRK1   PAQR6   PBXIP1   PEAR1   PKLR   PMF1   PMF1-BGLAP   PMVK   PRCC   PYGO2   RAB25   RHBG   RIT1   RRNAD1   RUSC1   RUSC1-AS1   RXFP4   SCAMP3   SCARNA26A   SCARNA26B   SCARNA4   SEMA4A   SH2D2A   SHC1   SLC25A44   SLC50A1   SMG5   SNORA80E   SSR2   SYT11   THBS3   TMEM79   TRIM46   TSACC   TTC24   UBQLN4   VHLL   YY1AP1   ZBTB7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_154566501)_(157624084_?)dup
NC_000001.10:g.(?_154538977)_(157593874_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,566,501 - 157,624,084CLINVAR
GRCh371154,538,977 - 157,593,874CLINVAR
Build 361152,805,601 - 155,860,498CLINVAR
Cytogenetic Map11q21.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487432
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.