Mutation details:

cDNA level identifier (NM_022912):

c.183-2980_417+6233

Gene level identifier:

g.80290_92360del

Archive identifier/Other designation:

Deletion of exons 4-5

Reference, alternative allele:

C+12070, C

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).