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

Variant : CV170880 (GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3) Homo sapiens

Symbol: CV170880
Name: GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3
Condition: See cases [RCV000050620]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC016065.1   AC019257.1   AC100797.5   AC100810.1   AC246817.1   AF067845.2   AF233439.1   AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB4A   DEFB4B   DLGAP2   DLGAP2-AS1   ERICH1   FAM66B   FAM87A   FBXO25   KBTBD11   KBTBD11-OT1   LINC00965   MCPH1   MCPH1-AS1   MIR3674   MIR4659A   MIR4659B   MIR596   MIR7160   MIR8055   MYOM2   PRR23D1   PRR23D2   SPAG11A   SPAG11B   TDRP   USP17L1   USP17L4   XKR5   ZNF596   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_241530)_(7895064_?)dup
NC_000008.10:g.(?_191530)_(7752586_?)dup
NC_000008.9:g.(?_181530)_(7789996_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388241,530 - 7,895,064CLINVAR
GRCh378191,530 - 7,752,586CLINVAR
Build 368181,530 - 7,789,996CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9684543
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE



NHLBI Logo

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