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Variant : CV140976 (NM_004456.4(EZH2):c.2110+6T>G) Homo sapiens

Symbol: CV140976
Name: NM_004456.4(EZH2):c.2110+6T>G
Condition: Weaver syndrome [RCV000358908]|not provided [RCV000124959]|not specified [RCV000145977]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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): NM_004456.4:c.2110+6T>G
NG_032043.1:g.80046T>G
NC_000007.14:g.148809304A>C
NC_000007.13:g.148506396A>C
LRG_531t1:c.2110+6T>G
LRG_531:g.80046T>G
NM_001203249.2:c.1942+6T>G
NM_152998.3:c.1978+6T>G
NM_001203248.2:c.2068+6T>G
NM_001203247.2:c.2095+6T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,809,304 - 148,809,304CLINVAR
GRCh377148,506,396 - 148,506,396CLINVAR
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: 8691017
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.