F8 c.2417del ;(p.S806Lfs*5)

Variant ID: X-154159648-AG-A

NM_000132.3(F8):c.2417del;(p.S806Lfs*5)

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:

Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers.

Blood
Hudecova, Irena I; Jiang, Peiyong P; Davies, Joanna J; Lo, Y M Dennis YMD; Kadir, Rezan A RA; Chiu, Rossa W K RWK
Publication Date: 2017-07-20

Variant appearance in text: F8: 2417delC; Ser806fs
PubMed Link: 28490568
Variant Present in the following documents:
  • Main text
View BVdb publication page