Bibliome.ai browser hg19
Search
About
Stats
FAQ
F8 c.6277G>C ;(p.D2093H)
Variant ID: X-154124504-C-G
NM_000132.3(
F8
):c.6277G>C;(p.D2093H)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: D2093H
PubMed Link:
31267011
Variant Present in the following documents:
41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
HLA-DRB1-factor VIII binding is a risk factor for inhibitor development in nonsevere hemophilia: a case-control study.
Blood Advances
Kempton, Christine L CL; Payne, Amanda B AB
Publication Date: 2018-07-24
Variant appearance in text: F8: Asp2093His
PubMed Link:
30037801
Variant Present in the following documents:
Main text
View BVdb publication page