COL4A5 c.187G>T ;(p.G63*)

Variant ID: X-107802339-G-T

NM_033380.2(COL4A5):c.187G>T;(p.G63*)

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:

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One
Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y
Publication Date: 2015

Variant appearance in text: COL4A5: 187G>T; G63*
PubMed Link: 26274329
Variant Present in the following documents:
  • Main text
  • pone.0133636.pdf
View BVdb publication page