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Variant : CV54438 (NM_005228.5(EGFR):c.2361G>A (p.Gln787=)) Homo sapiens

Symbol: CV54438
Name: NM_005228.5(EGFR):c.2361G>A (p.Gln787=)
Condition: AllHighlyPenetrant [RCV000038427]|Lung cancer [RCV000321080]|not specified [RCV000038427]
Clinical Significance: benign|likely benign
Last Evaluated: 01/05/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: EGFR   EGFR-AS1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: synonymous variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NG_007726.3:g.167339G>A
NC_000007.14:g.55181370G>A
NC_000007.13:g.55249063G>A
NP_005219.2:p.Gln787=
c.2361G>A
p.Gln787Gln
LRG_304t1:c.2361G>A
LRG_304:g.167339G>A
NM_005228.3:c.2361G>A
NP_001333829.1:p.Gln734=
NP_001333870.1:p.Gln520=
NP_001333826.1:p.Gln742=
NP_001333828.1:p.Gln742=
NP_001333827.1:p.Gln787=
NM_001346898.2:c.2361G>A
NM_005228.5:c.2361G>A
NR_047551.1:n.1201C>T
NM_001346941.2:c.1560G>A
NM_001346900.2:c.2202G>A
NM_001346899.1:c.2226G>A
NM_001346897.2:c.2226G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,181,370 - 55,181,370CLINVAR
GRCh37755,249,063 - 55,249,063CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Lung cancer, somatic



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608107
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.