F8 c.779C>G ;(p.S260C)

Variant ID: X-154212970-G-C

NM_000132.3(F8):c.779C>G;(p.S260C)

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:

Factor VIII and vWF deficiency in STT3A-CDG.

Journal Of Inherited Metabolic Disease
Chang, Irene J IJ; Byers, Heather M HM; Ng, Bobby G BG; Merritt, John Lawrence JL; Gilmore, Reid R; Shrimal, Shiteshu S; Wei, Wei W; Zhang, Yuan Y; Blair, Amanda B AB; Freeze, Hudson H HH; Zhang, Bin B; Lam, Christina C
Publication Date: 2019-03

Variant appearance in text: FVIII: 779C>G
PubMed Link: 30701557
Variant Present in the following documents:
  • Main text
View BVdb publication page