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Variant : CV310172 (NM_004456.4(EZH2):c.-26G>A) Homo sapiens

Symbol: CV310172
Name: NM_004456.4(EZH2):c.-26G>A
Condition: Weaver syndrome [RCV000362248]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: EZH2  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|5 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_531t1:c.-26G>A
NM_004456.4:c.-26G>A
LRG_531:g.5168G>A
NG_032043.1:g.5168G>A
NC_000007.14:g.148884182C>T
NC_000007.13:g.148581274C>T
NM_001203247.2:c.-26G>A
NM_001203248.2:c.-26G>A
NM_152998.3:c.-26G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh387148,884,182 - 148,884,182CLINVAR
GRCh377148,581,274 - 148,581,274CLINVAR
Cytogenetic Map77q36.1CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11659882
Created: 2017-01-11
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.