NM_020964.3:c.3693G>A

NG_042838.1:g.56829G>A
NM_020964.3:c.3693G>A
NP_066015.2:p.Gln1231=
Mutation occurs at the last base of the exon and is expected to cause aberrant splicing of the EPG5 transcript

chr18:45915511

Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
242840.7	Saudi Arabia	2		Pathogenic	Vici Syndrome	Byrne et al. 2016	The patient had 2 siblings with Gaucher'...