PAH c.840_841insT ;(p.P281Sfs*2)

Variant ID: 12-103246594-G-GA

NM_000277.1(PAH):c.840_841insT;(p.P281Sfs*2)

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:

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Methods And Protocols
Tolve, Manuela M; Artiola, Cristiana C; Pasquali, Amelia A; Giovanniello, Teresa T; D'Amici, Sirio S; Angeloni, Antonio A; Pizzuti, Antonio A; Carducci, Claudia C; Leuzzi, Vincenzo V; Carducci, Carla C
Publication Date: 2018-08-16

Variant appearance in text: PAH: Pro281fs
PubMed Link: 31164572
Variant Present in the following documents:
  • Main text
View BVdb publication page