PAH c.840_841insG ;(p.P281Afs*2)

PAH c.840_841insG ;(p.P281Afs*2)

Variant ID: 12-103246594-G-GC

NM_000277.1(PAH):c.840_841insG;(p.P281Afs*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: N/A

PubMed Link: 31164572

Variant Present in the following documents:

View BVdb publication page