Table 8.

Notable Pathogenic Variants in Genes Causing Cockayne Syndrome

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
ERCC6 NM_000124​.3
NP_000115​.1 		c.3862C>Tp.Arg1288TerAssoc w/COFS; founder variant in Finnish population [Jaakkola et al 2010, Laugel et al 2010]
ERCC8 NM_000082​.3
NP_000073​.1 		c.966C>Ap.Tyr322TerFounder variant in Christian Arabs [Khayat et al 2010, Chebly et al 2018]

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.

Genes in alphabetic order

From: Cockayne Syndrome

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