PAH c.32T>A ;(p.L11*)

Variant ID: 12-103310877-A-T

NM_000277.1(PAH):c.32T>A;(p.L11*)

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:

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Annals Of Translational Medicine
Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W
Publication Date: 2019-06

Variant appearance in text: PAH: 32T>A; L11*
PubMed Link: 31355225
Variant Present in the following documents:
  • Main text
View BVdb publication page