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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