F8 c.6037G>A ;(p.G2013R)

Variant ID: X-154130404-C-T

NM_000132.3(F8):c.6037G>A;(p.G2013R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

American Journal Of Human Genetics
Lombardi, Silvia S; Leo, Gabriele G; Merlin, Simone S; Follenzi, Antonia A; McVey, John H JH; Maestri, Iva I; Bernardi, Francesco F; Pinotti, Mirko M; Balestra, Dario D
Publication Date: 2021-08-05

Variant appearance in text: FVIII: 6037G>A
PubMed Link: 34242570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02

Variant appearance in text: FVIII: G2013R
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.

Haematologica
Castaman, Giancarlo G
Publication Date: 2018-02

Variant appearance in text: F8: G2013R
PubMed Link: 29386375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Haematologica
Donadon, Irving I; McVey, John H JH; Garagiola, Isabella I; Branchini, Alessio A; Mortarino, Mimosa M; Peyvandi, Flora F; Bernardi, Francesco F; Pinotti, Mirko M
Publication Date: 2018-02

Variant appearance in text: FVIII: G2013R
PubMed Link: 29170251
Variant Present in the following documents:
  • Main text
  • 1030344.pdf
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: G2013R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page