TEK c.1480C>T ;(p.H494Y)

Variant ID: 9-27190679-C-T

NM_000459.3(TEK):c.1480C>T;(p.H494Y)

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:

Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma.

Frontiers In Genetics
Qiao, Yunsheng Y; Chen, Yuhong Y; Tan, Chen C; Sun, Xinghuai X; Chen, Xueli X; Chen, Junyi J
Publication Date: 2021

Variant appearance in text: TEK: 1480C>T; H494Y
PubMed Link: 34956319
Variant Present in the following documents:
  • Main text
  • fgene-12-764509.pdf
View BVdb publication page