FRY c.4189G>T ;(p.A1397S)

Variant ID: 13-32783160-G-T

NM_023037.2(FRY):c.4189G>T;(p.A1397S)

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:

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.

European Journal Of Human Genetics : Ejhg
Barrell, William B WB; Adel Al-Lami, Hadeel H; Goos, Jacqueline A C JAC; Swagemakers, Sigrid M A SMA; van Dooren, Marieke M; Torban, Elena E; van der Spek, Peter J PJ; Mathijssen, Irene M J IMJ; Liu, Karen J KJ
Publication Date: 2022-03

Variant appearance in text: FRY: 4189G>T; Ala1397Ser
PubMed Link: 34719684
Variant Present in the following documents:
  • 41431_2021_Article_988.pdf
  • 41431_2021_988_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page