Bibliome.ai browser hg19
Search
About
Stats
FAQ
F8 c.4942C>T ;(p.Q1648*)
Variant ID: X-154157123-G-A
NM_000132.3(
F8
):c.4942C>T;(p.Q1648*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
Bmc Medical Genetics
Lin, Shin-Yu SY; Su, Yi-Ning YN; Hung, Chia-Cheng CC; Tsay, Woei W; Chiou, Shyh-Shin SS; Chang, Chieh-Ting CT; Ho, Hong-Nerng HN; Lee, Chien-Nan CN
Publication Date: 2008-06-20
Variant appearance in text: FVIII: 4942C>T
PubMed Link:
18565236
Variant Present in the following documents:
Main text
1471-2350-9-53.pdf
View BVdb publication page