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Variant : CV363158 (NM_005228.5(EGFR):c.2429G>A (p.Gly810Asp)) Homo sapiens

Symbol: CV363158
Name: NM_005228.5(EGFR):c.2429G>A (p.Gly810Asp)
Condition: Carcinoma, Squamous Cell [RCV000425650]|Squamous cell carcinoma [RCV000425650]
Clinical Significance: likely pathogenic
Last Evaluated: 07/14/2015
Review Status: no assertion criteria provided
Related Genes: EGFR   EGFR-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_001346897.2:c.2294G>A
NM_001346899.1:c.2294G>A
NM_001346898.2:c.2429G>A
NM_005228.5:c.2429G>A
NP_001333870.1:p.Gly543Asp
NP_001333829.1:p.Gly757Asp
NP_001333826.1:p.Gly765Asp
NP_001333828.1:p.Gly765Asp
NM_001346941.2:c.1628G>A
NM_001346900.2:c.2270G>A
LRG_304:g.167407G>A
NG_007726.3:g.167407G>A
NC_000007.14:g.55181438G>A
NC_000007.13:g.55249131G>A
NR_047551.1:n.1133C>T
NP_005219.2:p.Gly810Asp
NP_001333827.1:p.Gly810Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,181,438 - 55,181,438CLINVAR
GRCh37755,249,131 - 55,249,131CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Squamous cell cancer



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12837718
Created: 2017-04-11
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.