GJB1 c.73C>T ;(p.L25F)

Variant ID: X-70443630-C-T

NM_000166.5(GJB1):c.73C>T;(p.L25F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, ChloƩ C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: GJB1: L25F
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 2
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: GJB1: L25F
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: GJB1: L25F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Hand weakness in Charcot-Marie-Tooth disease 1X.

Neuromuscular Disorders : Nmd
Arthur-Farraj, P J PJ; Murphy, S M SM; Laura, M M; Lunn, M P MP; Manji, H H; Blake, J J; Ramdharry, G G; Fox, Z Z; Reilly, M M MM
Publication Date: 2012-07

Variant appearance in text: GJB1: Leu25Phe
PubMed Link: 22464564
Variant Present in the following documents:
  • Main text
View BVdb publication page