Mutation details:

cDNA level identifier (NM_022912):

c.(105+1_106-1)_(182+1_183-1)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:

1 heterozygous (1 in total).