F7 c.64+196G>A

Variant ID: 13-113760415-G-A

NM_019616.3(F7):c.64+196G>A

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.

Haematologica
Ferraresi, Paolo P; Balestra, Dario D; Guittard, Caroline C; Buthiau, Delphine D; Pan-Petesh, Brigitte B; Maestri, Iva I; Farah, Roula R; Pinotti, Mirko M; Giansily-Blaizot, Muriel M
Publication Date: 2020-03

Variant appearance in text: F7: 64+196G>A; rs2774030
PubMed Link: 31273093
Variant Present in the following documents:
  • Main text
  • 1050829.pdf
View BVdb publication page


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: F7: 64+196G>A; rs2774030
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page


High-dimensional pharmacogenetic prediction of a continuous trait using machine learning techniques with application to warfarin dose prediction in African Americans.

Bioinformatics (Oxford, England)
Cosgun, Erdal E; Limdi, Nita A NA; Duarte, Christine W CW
Publication Date: 2011-05-15

Variant appearance in text: rs2774030
PubMed Link: 21450715
Variant Present in the following documents:
  • Main text
View BVdb publication page


Association of warfarin dose with genes involved in its action and metabolism.

Human Genetics
Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P
Publication Date: 2007-03

Variant appearance in text: rs2774030
PubMed Link: 17048007
Variant Present in the following documents:
View BVdb publication page