TG c.1889_1890del ;(p.Q630Lfs*33)

Variant ID: 8-133899506-CAA-C

NM_003235.4(TG):c.1889_1890del;(p.Q630Lfs*33)

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: TG: 1889_1890del
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page