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Variant : CV457503 (NM_004456.4(EZH2):c.1696C>A (p.Arg566Ser)) Homo sapiens

Symbol: CV457503
Name: NM_004456.4(EZH2):c.1696C>A (p.Arg566Ser)
Condition: Weaver syndrome [RCV000529234]
Clinical Significance: uncertain significance
Last Evaluated: 02/26/2018
Review Status: criteria provided, single submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_531t1:c.1696C>A
LRG_531:g.75236C>A
NG_032043.1:g.75236C>A
NC_000007.14:g.148814114G>T
NC_000007.13:g.148511206G>T
LRG_531p1:p.Arg566Ser
NP_004447.2:p.Arg566Ser
NM_004456.4:c.1696C>A
NP_694543.1:p.Arg522Ser
NP_001190177.1:p.Arg552Ser
NP_001190176.1:p.Arg561Ser
NM_001203249.2:c.1528C>A
NM_152998.3:c.1564C>A
NM_001203248.2:c.1654C>A
NM_001203247.2:c.1681C>A
NP_001190178.1:p.Arg510Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,814,114 - 148,814,114CLINVAR
GRCh377148,511,206 - 148,511,206CLINVAR
Cytogenetic Map77q36.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13482060
Created: 2018-01-09
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.