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Variant : CV54392 (NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)) Homo sapiens

Symbol: CV54392
Name: NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)
Condition: Adenocarcinoma of lung [RCV000436293]|Glioblastoma [RCV000426037]|Lung adenocarcinoma [RCV000436293]|Non-small cell lung cancer [RCV000038381]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 05/31/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NG_007726.3:g.159984G>C
NC_000007.14:g.55174015G>C
NC_000007.13:g.55241708G>C
NP_005219.2:p.Gly719Ala
c.2156G>C
LRG_304t1:c.2156G>C
LRG_304:g.159984G>C
P00533:p.Gly719Ala
NM_005228.3:c.2156G>C
NM_001346941.2:c.1355G>C
NM_001346900.2:c.1997G>C
NM_001346897.2:c.2021G>C
NM_001346899.1:c.2021G>C
NM_001346898.2:c.2156G>C
NM_005228.5:c.2156G>C
NP_001333870.1:p.Gly452Ala
NP_001333829.1:p.Gly666Ala
NP_001333827.1:p.Gly719Ala
NP_001333826.1:p.Gly674Ala
NP_001333828.1:p.Gly674Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,174,015 - 55,174,015CLINVAR
GRCh37755,241,708 - 55,241,708CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Non-small cell lung carcinoma



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608061
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.