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EGFR c.1094T>A ;(p.I365N)
Variant ID: 7-55224313-T-A
NM_005228.3(
EGFR
):c.1094T>A;(p.I365N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The genetics of monogenic intestinal epithelial disorders.
Human Genetics
Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR
Publication Date: 2022-11-23
Variant appearance in text: EGFR: Ile365Asn
PubMed Link:
36422736
Variant Present in the following documents:
Main text
439_2022_Article_2501.pdf
View BVdb publication page
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.
Human Genome Variation
Hayashi, Shion S; Yokoi, Takayuki T; Hatano, Chihiro C; Enomoto, Yumi Y; Tsurusaki, Yoshinori Y; Naruto, Takuya T; Kobayashi, Masahisa M; Ida, Hiroyuki H; Kurosawa, Kenji K
Publication Date: 2018
Variant appearance in text: EGFR: 1094T>A; I365N
PubMed Link:
29899996
Variant Present in the following documents:
Main text
41439_2018_Article_11.pdf
View BVdb publication page