Mutation details:

cDNA level identifier (NM_022912):

c.303+2T > A

Gene level identifier:

g.83392T>A

Reference, alternative allele:

A, T

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).