ABCA4 c.6083C>T ;(p.T2028I)

Variant ID: 1-94471061-G-A

NM_000350.2(ABCA4):c.6083C>T;(p.T2028I)

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:

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Scientific Reports
Huang, Lulin L; Zhang, Qi Q; Huang, Xin X; Qu, Chao C; Ma, Shi S; Mao, Yao Y; Yang, Jiyun J; Li, You Y; Li, Yuanfeng Y; Tan, Chang C; Zhao, Peiquan P; Yang, Zhenglin Z
Publication Date: 2017-05-16

Variant appearance in text: ABCA4: Thr2028Ile
PubMed Link: 28512305
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_963.pdf
View BVdb publication page