F8 c.592T>C ;(p.C198R)

Variant ID: X-154221220-A-G

NM_000132.3(F8):c.592T>C;(p.C198R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: F8: 592T>C; C198R
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Atik, Tahir T; Işık, Esra E; Onay, Hüseyin H; Akgün, Bilçağ B; Shamsali, Moharram M; Kavaklı, Kaan K; Evim, Melike M; Tüysüz, Gülen G; Özbek, Namık Yaşar NY; Şahin, Fahri F; Salcıoğlu, Zafer Z; Albayrak, Canan C; Oymak, Yeşim Y; Ünal, Ekrem E; Belen, Fatma Burcu FB; Yılmaz Keskin, Ebru E; Balkan, Can C; Baytan, Birol B; Küpesiz, Alphan A; Culha, Vildan V; Tahtakesen Güçer, Tuba Nur TN; Güneş, Adalet Meral AM; Özkınay, Ferda F
Publication Date: 2020-08-28

Variant appearance in text: F8: C198R
PubMed Link: 32026663
Variant Present in the following documents:
  • TJH-37-145.pdf
View BVdb publication page



First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.

Diagnostic Pathology
Elmahmoudi, Hejer H; Khodjet-el-khil, Houssein H; Wigren, Edvard E; Jlizi, Asma A; Zahra, Kaouther K; Pellechia, Dorothé D; Vinciguerra, Christine C; Meddeb, Balkis B; Elggaaied, Amel Ben Ammar AB; Gouider, Emna E
Publication Date: 2012-08-10

Variant appearance in text: FVIII: 592T>C
PubMed Link: 22883072
Variant Present in the following documents:
  • Main text
  • 1746-1596-7-93.pdf
View BVdb publication page