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EGFR c.473A>G ;(p.N158S)
Variant ID: 7-55214347-A-G
NM_005228.3(
EGFR
):c.473A>G;(p.N158S)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Loss of Function of KCNC1 is associated with intellectual disability without seizures.
European Journal Of Human Genetics : Ejhg
Poirier, Karine K; Viot, Géraldine G; Lombardi, Laura L; Jauny, Clémence C; Billuart, Pierre P; Bienvenu, Thierry T
Publication Date: 2017-05
Variant appearance in text: EGFR: 473A>G
PubMed Link:
28145425
Variant Present in the following documents:
Main text
View BVdb publication page