Table 5. [Selected RNASEH2A Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

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Table 5.

Selected RNASEH2A Pathogenic Variants

DNA Nucleotide Change ¹	Predicted Protein Change	Reference Sequences
c.69G>A ²	p.Val23=	NM_006397.2 NP_006388.2
c.75C>T ²	p.Arg25=
c.109G>A	p.Gly37Ser
c.207_208insG	p.Thr69AspfsTer50
c.322C>T	p.Arg108Trp
c.556C>T	p.Arg186Trp
c.690C>A	p.Phe231Leu
c.704G>A	p.Arg236Gln
c.716_717dupGC	p.Thr239AlafsTer77
c.719C>T	p.Thr241Met
c.872G>A	p.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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Crow YJ. Aicardi-Goutières Syndrome. 2005 Jun 29 [Updated 2016 Nov 22]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Table 5. [Selected RNASEH2A Pathogenic Variants].
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