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

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.