PAH c.963C>T ;(p.L321=)

Variant ID: 12-103240679-G-A

NM_000277.1(PAH):c.963C>T;(p.L321=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Plos One
Koskenvuo, Juha W JW; Saarinen, Inka I; Ahonen, Saija S; Tommiska, Johanna J; Weckström, Sini S; Seppälä, Eija H EH; Tuupanen, Sari S; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Heliö, Krista K; Hathaway, Julie J; Gummesson, Anders A; Dahlberg, Pia P; Ojala, Tiina H TH; Vepsäläinen, Ville V; Kytölä, Ville V; Muona, Mikko M; Sistonen, Johanna J; Salmenperä, Pertteli P; Gentile, Massimiliano M; Paananen, Jussi J; Myllykangas, Samuel S; Alastalo, Tero-Pekka TP; Heliö, Tiina T
Publication Date: 2021

Variant appearance in text: PAH: 963C>T
PubMed Link: 33534821
Variant Present in the following documents:
  • pone.0245681.s001.xlsx, sheet 1
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: PAH: 963C>T; Leu321=
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: PAH: L321L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 63
View BVdb publication page



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Richards, Sue S; Aziz, Nazneen N; Bale, Sherri S; Bick, David D; Das, Soma S; Gastier-Foster, Julie J; Grody, Wayne W WW; Hegde, Madhuri M; Lyon, Elaine E; Spector, Elaine E; Voelkerding, Karl K; Rehm, Heidi L HL; ,
Publication Date: 2015-05

Variant appearance in text: PAH: 963C>T
PubMed Link: 25741868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Talkowski, Michael E ME; McClain, Lora L; Allen, Trina T; Bradford, L Dianne LD; Calkins, Monica M; Edwards, Neil N; Georgieva, Lyudmila L; Go, Rodney R; Gur, Ruben R; Gur, Raquel R; Kirov, George G; Chowdari, Kodavali K; Kwentus, Joseph J; Lyons, Paul P; Mansour, Hader H; McEvoy, Joseph J; O'Donovan, Michael C MC; O'Jile, Judith J; Owen, Michael J MJ; Santos, Alberto A; Savage, Robert R; Toncheva, Draga D; Vockley, Gerard G; Wood, Joel J; Devlin, Bernie B; Nimgaonkar, Vishwajit L VL
Publication Date: 2009-06-05

Variant appearance in text: PAH: L321L
PubMed Link: 18937293
Variant Present in the following documents:
  • Main text
View BVdb publication page