Table 7.

Notable ABCC6 Pathogenic Variants

Reference SequencesDNA Nucleotide
Protein Change
Comment [Reference]
c.3421C>Tp.Arg1141TerMost common (in descending order) disease-associated variants in European populations [Legrand et al 2017]
NM_001171​.5 Exon 23-29 deletion--
c.2542delGp.Val848CysfsTer83Most common (in descending order) pathogenic variants in the Japanese population [Iwanaga et al 2017]
NM_001171​.5 Exon 1-4 deletion--
c.4015C>Tp.Arg1339CysFounder variant that accounts for ~50% of disease alleles in the Afrikaner population [Le Saux et al 2002]

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​ See Quick Reference for an explanation of nomenclature.

From: Pseudoxanthoma Elasticum

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