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Variant : CV456781 (NM_004456.4(EZH2):c.2110+9C>G) Homo sapiens

Symbol: CV456781
Name: NM_004456.4(EZH2):c.2110+9C>G
Condition: Weaver syndrome [RCV000558981]
Clinical Significance: uncertain significance
Last Evaluated: 03/14/2017
Review Status: criteria provided, single submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_531t1:c.2110+9C>G
NM_004456.4:c.2110+9C>G
LRG_531:g.80049C>G
NG_032043.1:g.80049C>G
NC_000007.14:g.148809301G>C
NC_000007.13:g.148506393G>C
NM_001203249.2:c.1942+9C>G
NM_152998.3:c.1978+9C>G
NM_001203248.2:c.2068+9C>G
NM_001203247.2:c.2095+9C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,809,301 - 148,809,301CLINVAR
GRCh377148,506,393 - 148,506,393CLINVAR
Cytogenetic Map77q36.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13494547
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.