COL3A1 c.1472G>A ;(p.R491Q)

Variant ID: 2-189859788-G-A

NM_000090.3(COL3A1):c.1472G>A;(p.R491Q)

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 Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.

Biomed Research International
Yan, Lulu L; Shen, Ru R; Cao, Zongfu Z; Han, Chunxiao C; Zhang, Yuxin Y; Liu, Yingwen Y; Yang, Xiangchun X; Xie, Min M; Li, Haibo H
Publication Date: 2021

Variant appearance in text: COL3A1: 1472G>A; R491Q
PubMed Link: 33628804
Variant Present in the following documents:
  • Main text
  • BMRI2021-6661860.pdf
View BVdb publication page