ALK c.1989G>A ;(p.E663=)

Variant ID: 2-29498017-C-T

NM_004304.4(ALK):c.1989G>A;(p.E663=)

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:

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Italian Journal Of Pediatrics
Zhang, Ying Y; Nie, Yanyan Y; Mu, Yu Y; Zheng, Jie J; Xu, Xiaowei X; Zhang, Fang F; Shu, Jianbo J; Liu, Yang Y
Publication Date: 2022-05-12

Variant appearance in text: ALK: 1989G>A
PubMed Link: 35550617
Variant Present in the following documents:
  • 13052_2022_Article_1248.pdf
View BVdb publication page