TOPORS c.2507A>G ;(p.Y836C)

Variant ID: 9-32542016-T-C

NM_005802.4(TOPORS):c.2507A>G;(p.Y836C)

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:

Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.

Investigative Ophthalmology & Visual Science
Wang, Junwen J; Wang, Yingwei Y; Jiang, Yi Y; Li, Xueqing X; Xiao, Xueshan X; Li, Shiqiang S; Jia, Xiaoyun X; Sun, Wenmin W; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2022-05-02

Variant appearance in text: TOPORS: 2507A>G; Tyr836Cys
PubMed Link: 35579903
Variant Present in the following documents:
  • iovs-63-5-19_s004.xlsx, sheet 1
View BVdb publication page