ALK c.2598G>A ;(p.S866=)

Variant ID: 2-29455204-C-T

NM_004304.4(ALK):c.2598G>A;(p.S866=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs56304041
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM1_ESM.xls, sheet 1
View BVdb publication page