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Variant : CV363292 (NM_004456.4(EZH2):c.1922A>C (p.Glu641Ala)) Homo sapiens

Symbol: CV363292
Name: NM_004456.4(EZH2):c.1922A>C (p.Glu641Ala)
Condition: Malignant lymphoma, non-Hodgkin [RCV000429761]|Malignant melanoma of skin [RCV000436936]|Non-Hodgkin lymphoma [RCV000429761]
Clinical Significance: likely pathogenic
Last Evaluated: 05/31/2016
Review Status: no assertion criteria provided
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_152998.3:c.1790A>C
NM_001203248.2:c.1880A>C
NM_001203247.2:c.1907A>C
LRG_531t1:c.1922A>C
NM_004456.4:c.1922A>C
LRG_531:g.77700A>C
NG_032043.1:g.77700A>C
NC_000007.14:g.148811650T>G
NC_000007.13:g.148508742T>G
LRG_531p1:p.Glu641Ala
NP_004447.2:p.Glu641Ala
NP_694543.1:p.Glu597Ala
NP_001190177.1:p.Glu627Ala
NP_001190176.1:p.Glu636Ala
NM_001203249.2:c.1754A>C
NP_001190178.1:p.Glu585Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,811,650 - 148,811,650CLINVAR
GRCh377148,508,742 - 148,508,742CLINVAR
Cytogenetic Map77q36.1CLINVAR
Trait Synonyms: Familial non-Hodgkin lymphoma; LYMPHOMA, NON-HODGKIN, SOMATIC; Malignant lymphoma, non-Hodgkin; MELANOMA, MALIGNANT, SOMATIC
Age Of Onset: adult
Prevalence: 1-5 / 10 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12839945
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.