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F8 c.2215G>C ;(p.E739Q)
Variant ID: X-154159850-C-G
NM_000132.3(
F8
):c.2215G>C;(p.E739Q)
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 and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Human Molecular Genetics
Bodian, Dale L DL; Chan, Ting-Fung TF; Poon, Annie A; Schwarze, Ulrike U; Yang, Kathleen K; Byers, Peter H PH; Kwok, Pui-Yan PY; Klein, Teri E TE
Publication Date: 2009-02-01
Variant appearance in text: F8: 2215G>C
PubMed Link:
18996919
Variant Present in the following documents:
Main text
View BVdb publication page