PAH c.527G>C ;(p.R176P)

Variant ID: 12-103249093-C-G

NM_000277.1(PAH):c.527G>C;(p.R176P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: rs74486803
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Human Genomics
Spataro, Rossella R; Kousi, Maria M; Farhan, Sali M K SMK; Willer, Jason R JR; Ross, Jay P JP; Dion, Patrick A PA; Rouleau, Guy A GA; Daly, Mark J MJ; Neale, Benjamin M BM; La Bella, Vincenzo V; Katsanis, Nicholas N
Publication Date: 2019-04-16

Variant appearance in text: rs74486803
PubMed Link: 30992063
Variant Present in the following documents:
  • Main text
  • 40246_2019_Article_203.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PAH: R176P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: R176P
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
View BVdb publication page