Table 7.

Notable ELP1 Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)
Predicted Protein ChangeComment [Reference]
NM_003640​.5
NP_003631​.2
c.2087G>Cp.Arg696ProA rare variant identified in Ashkenazi Jews [Dong et al 2002]
NM_003640​.5 c.2204+6T>C
(IVS20+6T>C)
--Founder variant that accounts for >99.5% of pathogenic variants in Ashkenazi Jews [Dong et al 2002]

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.

Variant designation that does not conform to current naming conventions

From: Familial Dysautonomia

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