Mutation details:

cDNA level identifier (NM_022912):

c.417+1G>T

Gene level identifier:

g.86128G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

splice site

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

9 heterozygous (9 in total).