F8 c.669A>G ;(p.E223=)

Variant ID: X-154215513-T-C

NM_000132.3(F8):c.669A>G;(p.E223=)

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:

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.

Frontiers In Genetics
Balestra, Dario D; Maestri, Iva I; Branchini, Alessio A; Ferrarese, Mattia M; Bernardi, Francesco F; Pinotti, Mirko M
Publication Date: 2019

Variant appearance in text: F8: 669A>G; E223E
PubMed Link: 31649737
Variant Present in the following documents:
  • Main text
  • fgene-10-00974.pdf
View BVdb publication page