RARA c.747C>A ;(p.F249L)

Variant ID: 17-38508699-C-A

NM_000964.3(RARA):c.747C>A;(p.F249L)

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:

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.

Molecular Vision
Jiang, Dan D; Yang, Zhikuan Z; Li, Shiqiang S; Xiao, Xueshan X; Jia, Xiaoyun X; Wang, Panfeng P; Guo, Xiangming X; Liu, Xing X; Zhang, Qingjiong Q
Publication Date: 2013

Variant appearance in text: RARA: Phe249Leu
PubMed Link: 24227917
Variant Present in the following documents:
  • mv-v19-2217.pdf
View BVdb publication page