F8 c.6245G>C ;(p.S2082T)

Variant ID: X-154128169-C-G

NM_000132.3(F8):c.6245G>C;(p.S2082T)

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:

Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: FVIII: 6245G>C
PubMed Link: 24845853
Variant Present in the following documents:
  • Main text
  • pone.0097337.pdf
View BVdb publication page