PAH c.373A>T ;(p.I125F)

Variant ID: 12-103271308-T-A

NM_000277.1(PAH):c.373A>T;(p.I125F)

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:

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

Jimd Reports
Khatami, Shohreh S; Dehnabeh, Soghra Rouhi SR; Zeinali, Sirous S; Thöny, Beat B; Alaei, Mohammadreza M; Salehpour, Shadab S; Setoodeh, Aria A; Rohani, Farzaneh F; Hajivalizadeh, Fatemeh F; Samavat, Ashraf A
Publication Date: 2017

Variant appearance in text: PAH: 373A>T
PubMed Link: 27246466
Variant Present in the following documents:
  • Main text
View BVdb publication page