PAH c.311C>T ;(p.A104V)

Variant ID: 12-103288554-G-A

NM_000277.1(PAH):c.311C>T;(p.A104V)

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:

Allelic phenotype prediction of phenylketonuria based on the machine learning method.

Human Genomics
Fang, Yang Y; Gao, Jinshuang J; Guo, Yaqing Y; Li, Xiaole X; Yuan, Enwu E; Yuan, Erfeng E; Song, Liying L; Shi, Qianqian Q; Yu, Haiyang H; Zhao, Dehua D; Zhang, Linlin L
Publication Date: 2023-03-31

Variant appearance in text: PAH: 311C>T
PubMed Link: 37004080
Variant Present in the following documents:
  • Main text
  • 40246_2023_Article_481.pdf
View BVdb publication page