PAH c.226G>A ;(p.E76K)

Variant ID: 12-103288639-C-T

NM_000277.1(PAH):c.226G>A;(p.E76K)

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:

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

Jimd Reports
Al-Jasmi, Fatma A FA; Al-Shamsi, Aisha A; Hertecant, Jozef L JL; Al-Hamad, Sania M SM; Souid, Abdul-Kader AK
Publication Date: 2016

Variant appearance in text: PAH: 226G>A; E76K
PubMed Link: 26589311
Variant Present in the following documents:
  • Main text
View BVdb publication page