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Variant : CV54430 (NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis)) Homo sapiens

Symbol: CV54430
Name: NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis)
Condition: Non-small cell lung cancer [RCV000038419]
Clinical Significance: likely pathogenic
Last Evaluated: 03/01/2008
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EGFR   EGFR-AS1  
Variant Type: insertion (SO:0001821)
Source: CLINVAR
Molecular Consequence: cds-indel|inframe_insertion|inframe_variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NG_007726.3:g.167298_167299insGCCACG
NC_000007.14:g.55181329_55181330insGCCACG
NC_000007.13:g.55249022_55249023insGCCACG
c.2320_2321insGCCACG
NP_001333829.1:p.Val721_Cys722insGlyHis
LRG_304t1:c.2320_2321insGCCACG
LRG_304:g.167298_167299insGCCACG
NM_005228.3:c.2320_2321insGCCACG
NR_047551.1:n.1246_1247insCCGTGG
NP_001333870.1:p.Val507_Cys508insGlyHis
NM_001346941.2:c.1519_1520insGCCACG
NP_001333826.1:p.Val729_Cys730insGlyHis
NP_001333828.1:p.Val729_Cys730insGlyHis
NP_001333827.1:p.Val774_Cys775insGlyHis
NP_005219.2:p.Val774_Cys775insGlyHis
NM_001346900.2:c.2161_2162insGCCACG
NM_001346897.2:c.2185_2186insGCCACG
NM_001346899.1:c.2185_2186insGCCACG
NM_001346898.2:c.2320_2321insGCCACG
NM_005228.5:c.2320_2321insGCCACG
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,181,329 - 55,181,330CLINVAR
GRCh37755,249,022 - 55,249,023CLINVAR
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: 8608099
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.