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Variant : CV139276 (NM_004456.4(EZH2):c.1240+48G>A) Homo sapiens

Symbol: CV139276
Name: NM_004456.4(EZH2):c.1240+48G>A
Condition: AllHighlyPenetrant [RCV000122397]|not provided [RCV000835269]|not specified [RCV000122397]
Clinical Significance: likely benign|not provided
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|reference population
HGVS Name(s): NM_004456.4:c.1240+48G>A
NG_032043.1:g.71521G>A
NC_000007.14:g.148817829C>T
NC_000007.13:g.148514921C>T
LRG_531t1:c.1240+48G>A
LRG_531:g.71521G>A
NM_152998.3:c.1108+48G>A
NM_001203248.2:c.1198+48G>A
NM_001203249.2:c.1198+48G>A
NM_001203247.2:c.1225+48G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,817,829 - 148,817,829CLINVAR
GRCh377148,514,921 - 148,514,921CLINVAR
Cytogenetic Map77q36.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8686675
Created: 2014-07-08
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.