Mutation details:

Protein level identifier (NP_075063):

p.Asp56Asn

cDNA level identifier (NM_022912):

c.166G>A

Gene level identifier:

g.74103G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).