PAH c.376C>T ;(p.Q126*)

Variant ID: 12-103271305-G-A

NM_000277.1(PAH):c.376C>T;(p.Q126*)

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 spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Human Genomics
Zhang, Chuan C; Zhang, Pei P; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X
Publication Date: 2023-04-25

Variant appearance in text: PAH: Q126*
PubMed Link: 37098607
Variant Present in the following documents:
  • Main text
  • 40246_2023_Article_475.pdf
View BVdb publication page