Mutation details:

Protein level identifier (NP_075063):

p.Trp61Cysfs*9

cDNA level identifier (NM_022912):

c.183-1_183insCT

Gene level identifier:

g.83269_83270insCT

Reference, alternative allele:

C, CAG

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).