PAH c.1204T>C ;(p.F402L)

Variant ID: 12-103234289-A-G

NM_000277.1(PAH):c.1204T>C;(p.F402L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: PAH: 1204T>C
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A
Publication Date: 2007-11

Variant appearance in text: PAH: F402L
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
View BVdb publication page