Mutation details:

cDNA level identifier (NM_022912):

c.417+1G>A

Gene level identifier:

g.86128G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).