Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV438277 (NM_001813.2(CENPE):c.1487T>C (p.Ile496Thr)) Homo sapiens

Symbol: CV438277
Name: NM_001813.2(CENPE):c.1487T>C (p.Ile496Thr)
Condition: not provided [RCV000513305]
Clinical Significance: uncertain significance
Last Evaluated: 03/31/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: CENPE  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001813.2:c.1487T>C
NG_041798.1:g.28514T>C
NC_000004.12:g.103174896A>G
NC_000004.11:g.104096053A>G
NP_001804.2:p.Ile496Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh384103,174,896 - 103,174,896CLINVAR
GRCh374104,096,053 - 104,096,053CLINVAR
Cytogenetic Map44q24CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13446123
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.