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Variant : CV425741 (NM_004456.4(EZH2):c.619C>T (p.Arg207Ter)) Homo sapiens

Symbol: CV425741
Name: NM_004456.4(EZH2):c.619C>T (p.Arg207Ter)
Condition: not provided [RCV000498482]
Clinical Significance: likely pathogenic
Last Evaluated: 09/10/2014
Review Status: criteria provided, single submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_004456.4:c.619C>T
NM_001203249.2:c.592C>T
NM_001203247.2:c.619C>T
LRG_531t1:c.619C>T
LRG_531:g.60604C>T
NG_032043.1:g.60604C>T
NC_000007.14:g.148828746G>A
NC_000007.13:g.148525838G>A
LRG_531p1:p.Arg207Ter
NP_004447.2:p.Arg207Ter
NP_001190176.1:p.Arg207Ter
NP_001190178.1:p.Arg198Ter
NM_152998.3:c.502C>T
NM_001203248.2:c.592C>T
NP_694543.1:p.Arg168Ter
NP_001190177.1:p.Arg198Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,828,746 - 148,828,746CLINVAR
GRCh377148,525,838 - 148,525,838CLINVAR
Cytogenetic Map77q36.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13212204
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.