HR c.3242del ;(p.E1081Gfs*24)

Variant ID: 8-21974524-CT-C

NM_005144.4(HR):c.3242del;(p.E1081Gfs*24)

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:

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Human Mutation
Andersson, Nadine G NG; Labarque, Veerle V; Letelier, Anna A; Mancuso, Maria Elisa ME; Bührlen, Martina M; Fischer, Kathelijn K; Kartal-Kaess, Mutlu M; Koskenvuo, Minna M; Mikkelsen, Torben T; Ljung, Rolf R; ,
Publication Date: 2020-12

Variant appearance in text: HR: 3242del
PubMed Link: 32935414
Variant Present in the following documents:
  • Main text
View BVdb publication page