PC c.2749C>T ;(p.L917=)

Variant ID: 11-66617557-G-A

NM_001040716.1(PC):c.2749C>T;(p.L917=)

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:

Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing.

Yonsei Medical Journal
Cho, Eun Hye EH; Ki, Chang Seok CS; Yun, Sun Ae SA; Kim, Su Young SY; Jhun, Byung Woo BW; Koh, Won Jung WJ; Huh, Hee Jae HJ; Lee, Nam Yong NY
Publication Date: 2021-03

Variant appearance in text: PC: 2749C>T
PubMed Link: 33635012
Variant Present in the following documents:
  • ymj-62-224.pdf
View BVdb publication page