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

Variant : CV662275 (NM_004456.4(EZH2):c.2196-244A>G) Homo sapiens

Symbol: CV662275
Name: NM_004456.4(EZH2):c.2196-244A>G
Condition: not provided [RCV000837353]
Clinical Significance: likely benign
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001203249.2:c.2028-244A>G
NM_152998.3:c.2064-244A>G
NM_001203248.2:c.2154-244A>G
NM_001203247.2:c.2181-244A>G
NM_004456.4:c.2196-244A>G
NG_032043.1:g.81400A>G
NC_000007.14:g.148807950T>C
NC_000007.13:g.148505042T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,807,950 - 148,807,950CLINVAR
GRCh377148,505,042 - 148,505,042CLINVAR
Cytogenetic Map77q36.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14733998
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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