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Variant : CV363155 (NM_005228.5(EGFR):c.2236G>A (p.Glu746Lys)) Homo sapiens

Symbol: CV363155
Name: NM_005228.5(EGFR):c.2236G>A (p.Glu746Lys)
Condition: Non-small cell lung cancer [RCV000424472]
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): NP_001333829.1:p.Glu693Lys
NP_001333826.1:p.Glu701Lys
LRG_304:g.160742G>A
NG_007726.3:g.160742G>A
NC_000007.14:g.55174773G>A
NC_000007.13:g.55242466G>A
NP_005219.2:p.Glu746Lys
NM_001346941.2:c.1435G>A
NM_001346900.2:c.2077G>A
NM_001346897.2:c.2101G>A
NM_001346899.1:c.2101G>A
NM_001346898.2:c.2236G>A
NM_005228.5:c.2236G>A
NP_001333870.1:p.Glu479Lys
NP_001333828.1:p.Glu701Lys
NP_001333827.1:p.Glu746Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,174,773 - 55,174,773CLINVAR
GRCh37755,242,466 - 55,242,466CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Non-small cell lung carcinoma



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12837041
Created: 2017-04-11
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.