Table 6.

Notable F8 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000132​.4 c.-257T>G--Assoc w/mild hemophilia A [Riccardi et al 2009]
NM_000132​.4
NP_000123​.1 		c.1244C>Tp.Ala415ValFounder variant reported in persons from France [Lassalle et al 2018]
c.6046C>Tp.Arg2016TrpFounder variant reported in persons from northern Italy [Garagiola et al 2015]
c.6104T>Cp.Val2035AlaFounder variant reported in persons from Newfoundland & Labrador [Scully et al 2018]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: Hemophilia A

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