PHF2 c.372C>G ;(p.T124=)

Variant ID: 9-96407983-C-G

NM_005392.3(PHF2):c.372C>G;(p.T124=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: PHF2: T124T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
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Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.

Plos Genetics
Vogelezang, Suzanne S; Bradfield, Jonathan P JP; Ahluwalia, Tarunveer S TS; Curtin, John A JA; Lakka, Timo A TA; Grarup, Niels N; Scholz, Markus M; van der Most, Peter J PJ; Monnereau, Claire C; Stergiakouli, Evie E; Heiskala, Anni A; Horikoshi, Momoko M; Fedko, Iryna O IO; Vilor-Tejedor, Natalia N; Cousminer, Diana L DL; Standl, Marie M; Wang, Carol A CA; Viikari, Jorma J; Geller, Frank F; Íñiguez, Carmen C; Pitkänen, Niina N; Chesi, Alessandra A; Bacelis, Jonas J; Yengo, Loic L; Torrent, Maties M; Ntalla, Ioanna I; Helgeland, Øyvind Ø; Selzam, Saskia S; Vonk, Judith M JM; Zafarmand, Mohammed H MH; Heude, Barbara B; Farooqi, Ismaa Sadaf IS; Alyass, Akram A; Beaumont, Robin N RN; Have, Christian T CT; Rzehak, Peter P; Bilbao, Jose Ramon JR; Schnurr, Theresia M TM; Barroso, Inês I; Bønnelykke, Klaus K; Beilin, Lawrence J LJ; Carstensen, Lisbeth L; Charles, Marie-Aline MA; Chawes, Bo B; Clément, Karine K; Closa-Monasterolo, Ricardo R; Custovic, Adnan A; Eriksson, Johan G JG; Escribano, Joaquin J; Groen-Blokhuis, Maria M; Grote, Veit V; Gruszfeld, Dariusz D; Hakonarson, Hakon H; Hansen, Torben T; Hattersley, Andrew T AT; Hollensted, Mette M; Hottenga, Jouke-Jan JJ; Hyppönen, Elina E; Johansson, Stefan S; Joro, Raimo R; Kähönen, Mika M; Karhunen, Ville V; Kiess, Wieland W; Knight, Bridget A BA; Koletzko, Berthold B; Kühnapfel, Andreas A; Landgraf, Kathrin K; Langhendries, Jean-Paul JP; Lehtimäki, Terho T; Leinonen, Jaakko T JT; Li, Aihuali A; Lindi, Virpi V; Lowry, Estelle E; Bustamante, Mariona M; Medina-Gomez, Carolina C; Melbye, Mads M; Michaelsen, Kim F KF; Morgen, Camilla S CS; Mori, Trevor A TA; Nielsen, Tenna R H TRH; Niinikoski, Harri H; Oldehinkel, Albertine J AJ; Pahkala, Katja K; Panoutsopoulou, Kalliope K; Pedersen, Oluf O; Pennell, Craig E CE; Power, Christine C; Reijneveld, Sijmen A SA; Rivadeneira, Fernando F; Simpson, Angela A; Sly, Peter D PD; Stokholm, Jakob J; Teo, Kook K KK; Thiering, Elisabeth E; Timpson, Nicholas J NJ; Uitterlinden, André G AG; van Beijsterveldt, Catharina E M CEM; van Schaik, Barbera D C BDC; Vaudel, Marc M; Verduci, Elvira E; Vinding, Rebecca K RK; Vogel, Mandy M; Zeggini, Eleftheria E; Sebert, Sylvain S; Lind, Mads V MV; Brown, Christopher D CD; Santa-Marina, Loreto L; Reischl, Eva E; Frithioff-Bøjsøe, Christine C; Meyre, David D; Wheeler, Eleanor E; Ong, Ken K; Nohr, Ellen A EA; Vrijkotte, Tanja G M TGM; Koppelman, Gerard H GH; Plomin, Robert R; Njølstad, Pål R PR; Dedoussis, George D GD; Froguel, Philippe P; Sørensen, Thorkild I A TIA; Jacobsson, Bo B; Freathy, Rachel M RM; Zemel, Babette S BS; Raitakari, Olli O; Vrijheid, Martine M; Feenstra, Bjarke B; Lyytikäinen, Leo-Pekka LP; Snieder, Harold H; Kirsten, Holger H; Holt, Patrick G PG; Heinrich, Joachim J; Widén, Elisabeth E; Sunyer, Jordi J; Boomsma, Dorret I DI; Järvelin, Marjo-Riitta MR; Körner, Antje A; Davey Smith, George G; Holm, Jens-Christian JC; Atalay, Mustafa M; Murray, Clare C; Bisgaard, Hans H; McCarthy, Mark I MI; , ; Jaddoe, Vincent W V VWV; Grant, Struan F A SFA; Felix, Janine F JF
Publication Date: 2020-10

Variant appearance in text: rs9695734
PubMed Link: 33045005
Variant Present in the following documents:
  • Main text
  • pgen.1008718.pdf
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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 30008175
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs9695734
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: N/A
PubMed Link: 24219164
Variant Present in the following documents:
View BVdb publication page