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F8 c.1214T>C ;(p.I405T)
Variant ID: X-154194758-A-G
NM_000132.3(
F8
):c.1214T>C;(p.I405T)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs28933670
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014
Variant appearance in text: FVIII: 1214T>C
PubMed Link:
24845853
Variant Present in the following documents:
Main text
pone.0097337.pdf
View BVdb publication page
Three novel F8 mutations in sporadic haemophilia A cases.
Springerplus
Hussain, Rashid R; Abid, Noman Bin NB; Hussain, Sajjad S; Shaukat, Zeeshan Z; Altaf, Mudassir M; Altaf, Sara S; Niazi, Gulzar G
Publication Date: 2012
Variant appearance in text: rs28933670
PubMed Link:
23961341
Variant Present in the following documents:
Main text
View BVdb publication page