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Variant : CV305365 (NM_004456.4(EZH2):c.396T>C (p.Pro132=)) Homo sapiens

Symbol: CV305365
Name: NM_004456.4(EZH2):c.396T>C (p.Pro132=)
Condition: Weaver syndrome [RCV000337754]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 12/27/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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): LRG_531t1:c.396T>C
LRG_531:g.59534T>C
NG_032043.1:g.59534T>C
NC_000007.14:g.148829816A>G
NC_000007.13:g.148526908A>G
LRG_531p1:p.Pro132=
NP_004447.2:p.Pro132=
NM_004456.4:c.396T>C
NM_152998.3:c.279T>C
NM_001203248.2:c.369T>C
NM_001203249.2:c.369T>C
NM_001203247.2:c.396T>C
NP_001190177.1:p.Pro123=
NP_001190178.1:p.Pro123=
NP_001190176.1:p.Pro132=
NP_694543.1:p.Pro93=
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,829,816 - 148,829,816CLINVAR
GRCh377148,526,908 - 148,526,908CLINVAR
Cytogenetic Map77q36.1CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11606936
Created: 2017-01-11
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.