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Variant : CV54446 (NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)) Homo sapiens

Symbol: CV54446
Name: NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)
Condition: Non-small cell lung cancer [RCV000038435]
Clinical Significance: pathogenic
Last Evaluated: 12/06/2012
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NG_007726.3:g.177718G>T
NC_000007.14:g.55191749G>T
NC_000007.13:g.55259442G>T
NP_005219.2:p.Val834Leu
c.2500G>T
LRG_304t1:c.2500G>T
LRG_304:g.177718G>T
P00533:p.Val834Leu
NM_005228.3:c.2500G>T
NM_001346941.2:c.1699G>T
NM_001346900.2:c.2341G>T
NM_001346897.2:c.2365G>T
NM_001346899.1:c.2365G>T
NM_001346898.2:c.2500G>T
NM_005228.5:c.2500G>T
NP_001333829.1:p.Val781Leu
NP_001333826.1:p.Val789Leu
NP_001333870.1:p.Val567Leu
NP_001333828.1:p.Val789Leu
NP_001333827.1:p.Val834Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,191,749 - 55,191,749CLINVAR
GRCh37755,259,442 - 55,259,442CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Non-small cell lung carcinoma



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608115
Created: 2014-05-13
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.