Table 5.

Selected RNASEH2A Pathogenic Variants

DNA Nucleotide Change 1Predicted Protein ChangeReference Sequences
c.69G>A 2p.Val23= NM_006397​.2
NP_006388​.2
c.75C>T 2p.Arg25=
c.109G>Ap.Gly37Ser
c.207_208insGp.Thr69AspfsTer50
c.322C>Tp.Arg108Trp
c.556C>Tp.Arg186Trp
c.690C>Ap.Phe231Leu
c.704G>Ap.Arg236Gln
c.716_717dupGCp.Thr239AlafsTer77
c.719C>Tp.Thr241Met
c.872G>Ap.Arg292His

Variants listed in the table have been provided by the author. 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.

1.

Frequency of each allele is less than 1%.

2.

Two synonymous variants (c.69G>A and c.75C>T) in RNASEH2A are pathogenic due to an alteration in RNA splicing [Rice et al 2013b].

From: Aicardi-Goutières Syndrome

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