Mutation details:

cDNA level identifier (NM_022912):

c.183-2A>G

Gene level identifier:

g.83272A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

splice site

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).