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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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