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

Variant : CV74926 (GRCh38/hg38 8p23.3(chr8:241330-1847998)x1) Homo sapiens

Symbol: CV74926
Name: GRCh38/hg38 8p23.3(chr8:241330-1847998)x1
Condition: See cases [RCV000054208]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC100797.4   AC100810.1   AF067845.2   ARHGEF10   CLN8   DLGAP2   DLGAP2-AS1   ERICH1   FAM87A   FBXO25   LOC105377777   LOC106783493   MIR3674   MIR596   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_241330)_(1847998_?)del
NC_000008.10:g.(?_191330)_(1796164_?)del
NC_000008.9:g.(?_181330)_(1783571_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388241,330 - 1,847,998CLINVAR
GRCh378191,330 - 1,796,164CLINVAR
Build 368181,330 - 1,783,571CLINVAR
Cytogenetic Map88p23.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621118
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

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