F8 c.1811G>T ;(p.W604L)

Variant ID: X-154182259-C-A

NM_000132.3(F8):c.1811G>T;(p.W604L)

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:

Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII.

Scientific Reports
Wei, Wei W; Zheng, Chunlei C; Zhu, Min M; Zhu, Xiaofan X; Yang, Renchi R; Misra, Saurav S; Zhang, Bin B
Publication Date: 2017-03-22

Variant appearance in text: FVIII: 1811G>T
PubMed Link: 28327546
Variant Present in the following documents:
  • Main text
View BVdb publication page