FGD1 c.935C>T ;(p.P312L)

Variant ID: X-54496615-G-A

NM_004463.2(FGD1):c.935C>T;(p.P312L)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11

Variant appearance in text: FGD1: 935C>T; Pro312Leu
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s009.xlsx, sheet 1
View BVdb publication page



Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

American Journal Of Medical Genetics. Part A
Bayat, Allan A; Krett, Bjørg B; Dunø, Morten M; Torring, Pernille Mathiesen PM; Vissing, John J
Publication Date: 2022-07

Variant appearance in text: FGD1: P312L
PubMed Link: 35388608
Variant Present in the following documents:
  • AJMG-188-2251.pdf
View BVdb publication page



Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Npj Genomic Medicine
Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S
Publication Date: 2021-11-18

Variant appearance in text: FGD1: 935C>T; Pro312Leu
PubMed Link: 34795310
Variant Present in the following documents:
  • 41525_2021_261_MOESM2_ESM.pdf
View BVdb publication page



The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.

Genetics Research
Zanetti Drumond, Victor V; Sousa Salgado, Lucas L; Sousa Salgado, Camila C; Oliveira, Vitor Augusto de Lima VAL; de Assis, Eliene Magda EM; Campos Ribeiro, Michel M; Furtado Valadão, Analina A; Orrico, Alfredo A
Publication Date: 2021

Variant appearance in text: FGD1: P312L
PubMed Link: 33762894
Variant Present in the following documents:
  • GR2021-6652957.pdf
View BVdb publication page



Regulators of Rho GTPases in the Nervous System: Molecular Implication in Axon Guidance and Neurological Disorders.

International Journal Of Molecular Sciences
Niftullayev, Sadig S; Lamarche-Vane, Nathalie N
Publication Date: 2019-03-25

Variant appearance in text: FGD1: P312L
PubMed Link: 30934641
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.

International Journal Of Molecular Sciences
Zamboni, Valentina V; Jones, Rebecca R; Umbach, Alessandro A; Ammoni, Alessandra A; Passafaro, Maria M; Hirsch, Emilio E; Merlo, Giorgio R GR
Publication Date: 2018-06-20

Variant appearance in text: FGD1: P312L
PubMed Link: 29925821
Variant Present in the following documents:
  • Main text
  • ijms-19-01821.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: FGD1: 935C>T; Pro312Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.

Translational Psychiatry
Hinze, S J SJ; Jackson, M R MR; Lie, S S; Jolly, L L; Field, M M; Barry, S C SC; Harvey, R J RJ; Shoubridge, C C
Publication Date: 2017-05-02

Variant appearance in text: FGD1: P312L
PubMed Link: 28463240
Variant Present in the following documents:
  • tp201781a.pdf
View BVdb publication page



A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.

Bmc Pediatrics
Hamzeh, Abdul Rezzak AR; Saif, Fatima F; Nair, Pratibha P; Binjab, Asma Jassim AJ; Mohamed, Madiha M; Al-Ali, Mahmoud Taleb MT; Bastaki, Fatma F
Publication Date: 2017-01-19

Variant appearance in text: FGD1: P312L
PubMed Link: 28103835
Variant Present in the following documents:
  • 12887_2017_Article_781.pdf
View BVdb publication page



A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.

Cold Spring Harbor Molecular Case Studies
Griffin, Laurie Beth LB; Farley, Frances A FA; Antonellis, Anthony A; Keegan, Catherine E CE
Publication Date: 2016-07

Variant appearance in text: FGDY: P312L
PubMed Link: 27551683
Variant Present in the following documents:
  • GriffinMCS000943.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28935498
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: FGD1: P312L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.

Molecular Genetics & Genomic Medicine
Pérez-Coria, Mariana M; Lugo-Trampe, José J JJ; Zamudio-Osuna, Michell M; Rodríguez-Sánchez, Iram P IP; Lugo-Trampe, Angel A; de la Fuente-Cortez, Beatriz B; Campos-Acevedo, Luis D LD; Martínez-de-Villarreal, Laura E LE
Publication Date: 2015-05

Variant appearance in text: FGD1: P312L
PubMed Link: 26029706
Variant Present in the following documents:
  • mgg30003-0197.pdf
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: FGD1: P312L; rs28935498
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

American Journal Of Human Genetics
Piton, Amélie A; Redin, Claire C; Mandel, Jean-Louis JL
Publication Date: 2013-08-08

Variant appearance in text: FGD1: 935C>T; Pro312Leu
PubMed Link: 23871722
Variant Present in the following documents:
  • Main text
View BVdb publication page