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Variant : CV54404 (NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer)) Homo sapiens

Symbol: CV54404
Name: NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer)
Condition: Non-small cell lung cancer [RCV000038393]
Clinical Significance: likely pathogenic
Last Evaluated: 03/01/2008
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EGFR  
Variant Type: deletion (SO:0001820)
Source: CLINVAR
Molecular Consequence: inframe_indel|inframe_variant
Evidence: clinical testing
HGVS Name(s): NP_005219.2:p.Leu747_Ala750delinsSer
c.2240_2248delTAAGAGAAG
p.Leu747_Glu749del
NM_005228.3:c.2240_2248delTAAGAGAAG
NM_001346897.2:c.2105_2113del
NM_001346899.1:c.2105_2113del
NM_001346898.2:c.2240_2248del
NM_005228.5:c.2240_2248del
NG_007726.3:g.160746_160754del
NC_000007.14:g.55174777_55174785del
NC_000007.13:g.55242470_55242478del
NM_001346941.2:c.1439_1447del
LRG_304t1:c.2240_2248del
LRG_304:g.160746_160754del
NM_001346900.2:c.2081_2089del
NP_001333870.1:p.Leu480_Ala483delinsSer
NP_001333829.1:p.Leu694_Ala697delinsSer
NP_001333826.1:p.Leu702_Ala705delinsSer
NP_001333828.1:p.Leu702_Ala705delinsSer
NP_001333827.1:p.Leu747_Ala750delinsSer
NC_000007.13:g.55242470_55242478delTAAGAGAAG
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,174,777 - 55,174,785CLINVAR
GRCh37755,242,470 - 55,242,478CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Non-small cell lung carcinoma



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608073
Created: 2014-05-13
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.