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Variant : CV137960 (NM_004456.4(EZH2):c.1810G>A (p.Val604Met)) Homo sapiens

Symbol: CV137960
Name: NM_004456.4(EZH2):c.1810G>A (p.Val604Met)
Condition: AllHighlyPenetrant [RCV000120894]|not specified [RCV000120894]
Clinical Significance: not provided
Last Evaluated: 09/19/2013
Review Status: no assertion provided|not classified by submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: reference population
HGVS Name(s): NM_004456.4:c.1810G>A
NG_032043.1:g.75350G>A
NC_000007.14:g.148814000C>T
NC_000007.13:g.148511092C>T
NP_004447.2:p.Val604Met
LRG_531t1:c.1810G>A
LRG_531:g.75350G>A
LRG_531p1:p.Val604Met
NM_001203249.2:c.1642G>A
NM_152998.3:c.1678G>A
NM_001203248.2:c.1768G>A
NM_001203247.2:c.1795G>A
NP_001190178.1:p.Val548Met
NP_694543.1:p.Val560Met
NP_001190177.1:p.Val590Met
NP_001190176.1:p.Val599Met
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,814,000 - 148,814,000CLINVAR
GRCh377148,511,092 - 148,511,092CLINVAR
Cytogenetic Map77q36.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8687507
Created: 2014-07-08
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.