Table 4.

Notable HOGA1 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_138413​.4
NP_612422​.2 		c.944_946delAGGp.Glu315delFounder variant that accounts for 66% of pathogenic variants in persons of Ashkenazi Jewish descent [Belostotsky et al 2010, Zlotogora et al 2018]
c.107C>Tp.Ala36ValFounder variant that accounts for 22% of pathogenic variants in persons of Ashkenazi Jewish descent [Belostotsky et al 2010, Zlotogora et al 2018]
NM_138413​.4 c.700+5G>T--The most common pathogenic variant causing PH3 [Belostotsky et al 2010, Hopp et al 2015]

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.

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