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

Variant : CV662836 (NM_004456.4(EZH2):c.2195+99T>C) Homo sapiens

Symbol: CV662836
Name: NM_004456.4(EZH2):c.2195+99T>C
Condition: not provided [RCV000839863]
Clinical Significance: benign
Last Evaluated: 06/19/2018
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.2027+99T>C
NM_152998.3:c.2063+99T>C
NM_001203248.2:c.2153+99T>C
NM_001203247.2:c.2180+99T>C
NM_004456.4:c.2195+99T>C
NG_032043.1:g.80378T>C
NC_000007.14:g.148808972A>G
NC_000007.13:g.148506064A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,808,972 - 148,808,972CLINVAR
GRCh377148,506,064 - 148,506,064CLINVAR
Cytogenetic Map77q36.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14739412
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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