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Variant : CV168579 (NM_004456.4(EZH2):c.1017T>C (p.Phe339=)) Homo sapiens

Symbol: CV168579
Name: NM_004456.4(EZH2):c.1017T>C (p.Phe339=)
Condition: Weaver syndrome [RCV000225902]|not specified [RCV000145969]
Clinical Significance: benign
Last Evaluated: 09/29/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_032043.1:g.71250T>C
NC_000007.14:g.148818100A>G
NC_000007.13:g.148515192A>G
NP_004447.2:p.Phe339=
LRG_531t1:c.1017T>C
LRG_531:g.71250T>C
LRG_531p1:p.Phe339=
NM_004456.4:c.1017T>C
NM_001203248.2:c.975T>C
NP_001190177.1:p.Phe325=
NM_001203247.2:c.1002T>C
NM_152998.3:c.885T>C
NP_001190176.1:p.Phe334=
NM_001203249.2:c.975T>C
NP_694543.1:p.Phe295=
NP_001190178.1:p.Phe325=
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,818,100 - 148,818,100CLINVAR
GRCh377148,515,192 - 148,515,192CLINVAR
Cytogenetic Map77q36.1CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9682483
Created: 2014-12-09
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.