F8 c.6596_6597delinsGC ;(p.M2199S)

Variant ID: X-154090119-CA-GC

NM_000132.3(F8):c.6596_6597delinsGC;(p.M2199S)

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:

FVIII proteins with a modified immunodominant T-cell epitope exhibit reduced immunogenicity and normal FVIII activity.

Blood Advances
Ettinger, Ruth A RA; Liberman, Joseph A JA; Gunasekera, Devi D; Puranik, Komal K; James, Eddie A EA; Thompson, Arthur R AR; Pratt, Kathleen P KP
Publication Date: 2018-02-27

Variant appearance in text: FVIII: M2199S
PubMed Link: 29444872
Variant Present in the following documents:
  • Main text
View BVdb publication page