F8 c.232T>C ;(p.F78L)

Variant ID: X-154227787-A-G

NM_000132.3(F8):c.232T>C;(p.F78L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: F8: 232T>C; Phe78Leu
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Research And Practice In Thrombosis And Haemostasis
Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K
Publication Date: 2017-10

Variant appearance in text: F8: 232T>C; Phe78Leu
PubMed Link: 30046696
Variant Present in the following documents:
  • Main text
  • RTH2-1-264.pdf
View BVdb publication page