APC c.1458_1460delinsCGA ;(p.G487E)

Variant ID: 5-112162854-TGG-CGA

NM_000038.5(APC):c.1458_1460delinsCGA;(p.G487E)

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:

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One
Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y
Publication Date: 2022

Variant appearance in text: rs1554081678
PubMed Link: 35486589
Variant Present in the following documents:
  • pone.0267751.s001.xls, sheet 1
View BVdb publication page