TTN c.30511G>A ;(p.E10171K)

Variant ID: 2-179566895-C-T

NM_001267550.1(TTN):c.30511G>A;(p.E10171K)

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:

Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Bmc Medical Genetics
Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH
Publication Date: 2020-10-31

Variant appearance in text: TMD: 30511G>A
PubMed Link: 33129279
Variant Present in the following documents:
  • 12881_2020_Article_1152.pdf
View BVdb publication page