FDXR c.695T>C ;(p.L232P)

Variant ID: 17-72860968-A-G

NM_024417.2(FDXR):c.695T>C;(p.L232P)

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:

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.

Genes
Yi, Shutong S; Zheng, Yuxi Y; Yi, Zhen Z; Wang, Yingwei Y; Jiang, Yi Y; Ouyang, Jiamin J; Li, Shiqiang S; Xiao, Xueshan X; Sun, Wenmin W; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2023-04-21

Variant appearance in text: FDXR: L232P
PubMed Link: 37107710
Variant Present in the following documents:
  • Main text
  • genes-14-00952.pdf
View BVdb publication page