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Variant : CV363160 (NM_005228.5(EGFR):c.2573T>A (p.Leu858Gln)) Homo sapiens

Symbol: CV363160
Name: NM_005228.5(EGFR):c.2573T>A (p.Leu858Gln)
Condition: Non-small cell lung cancer [RCV000419082]
Clinical Significance: likely pathogenic
Last Evaluated: 07/14/2015
Review Status: no assertion criteria provided
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_005228.5:c.2573T>A
NP_001333826.1:p.Leu813Gln
NP_001333828.1:p.Leu813Gln
LRG_304:g.177791T>A
NG_007726.3:g.177791T>A
NC_000007.14:g.55191822T>A
NC_000007.13:g.55259515T>A
NP_005219.2:p.Leu858Gln
NM_001346897.2:c.2438T>A
NM_001346899.1:c.2438T>A
NM_001346898.2:c.2573T>A
NP_001333870.1:p.Leu591Gln
NP_001333829.1:p.Leu805Gln
NP_001333827.1:p.Leu858Gln
NM_001346900.2:c.2414T>A
NM_001346941.2:c.1772T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,191,822 - 55,191,822CLINVAR
GRCh37755,259,515 - 55,259,515CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Non-small cell lung carcinoma



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834453
Created: 2017-04-11
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.