F8 c.6278A>G ;(p.D2093G)

Variant ID: X-154124503-T-C

NM_000132.3(F8):c.6278A>G;(p.D2093G)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: F8: 6278A>G; Asp2093Gly
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: D2093G
PubMed Link: 32026663
Variant Present in the following documents:
  • TJH-37-145.pdf
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: F8: D2093G
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers.

Blood
Hudecova, Irena I; Jiang, Peiyong P; Davies, Joanna J; Lo, Y M Dennis YMD; Kadir, Rezan A RA; Chiu, Rossa W K RWK
Publication Date: 2017-07-20

Variant appearance in text: F8: 6278A>G; Asp2093Gly
PubMed Link: 28490568
Variant Present in the following documents:
  • Main text
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: D2093G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A.

Blood
Castaman, Giancarlo G; Fijnvandraat, Karin K
Publication Date: 2014-10-09

Variant appearance in text: FVIII: Asp2093Gly
PubMed Link: 25139352
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis.

International Journal Of Women'S Health
Gahan, Peter B PB
Publication Date: 2013

Variant appearance in text: F8: 6278A>G
PubMed Link: 23637563
Variant Present in the following documents:
  • Main text
View BVdb publication page