Table 7. [Notable ELP1 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; 1993-2024.

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Table 7.

Notable ELP1 Pathogenic Variants

Reference Sequences	DNA Nucleotide Change (Alias ¹)	Predicted Protein Change	Comment [Reference]
NM_003640.5 NP_003631.2	c.2087G>C	p.Arg696Pro	A 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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Bar-Aluma BE. Familial Dysautonomia. 2003 Jan 21 [Updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Table 7. [Notable ELP1 Pathogenic Variants].
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