F8 c.6577_6578delinsGC ;(p.C2193A)

Variant ID: X-154090138-CA-GC

NM_000132.3(F8):c.6577_6578delinsGC;(p.C2193A)

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:

Theoretical and experimental study of the D2194G mutation in the C2 domain of coagulation factor V.

Biophysical Journal
Miteva, M A MA; Brugge, J M JM; Rosing, J J; Nicolaes, G A F GA; Villoutreix, B O BO
Publication Date: 2004-01

Variant appearance in text: FVIII: C2193A
PubMed Link: 14695293
Variant Present in the following documents:
  • Main text
View BVdb publication page