Mutation details:

cDNA level identifier (NM_022912):

c.(32+1_33-1)_(105+1_106-1)del

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).