F8 c.670G>T ;(p.G224W)

Variant ID: X-154215512-C-A

NM_000132.3(F8):c.670G>T;(p.G224W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.

Frontiers In Genetics
Balestra, Dario D; Maestri, Iva I; Branchini, Alessio A; Ferrarese, Mattia M; Bernardi, Francesco F; Pinotti, Mirko M
Publication Date: 2019

Variant appearance in text: F8: 670G>T
PubMed Link: 31649737
Variant Present in the following documents:
  • Main text
  • fgene-10-00974.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: HEMA: G224W
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: F8: G224W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: FVIII: 670G>T
PubMed Link: 24845853
Variant Present in the following documents:
  • Main text
  • pone.0097337.pdf
View BVdb publication page