F8 c.4385T>C ;(p.L1462P)

Variant ID: X-154157680-A-G

NM_000132.3(F8):c.4385T>C;(p.L1462P)

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:

Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Journal Of Thrombosis And Haemostasis : Jth
Ogata, K K; Selvaraj, S R SR; Miao, H Z HZ; Pipe, S W SW
Publication Date: 2011-06

Variant appearance in text: FVIII: L1462P
PubMed Link: 21645226
Variant Present in the following documents:
  • Main text
View BVdb publication page