Mutation details:

Protein level identifier (NP_075063):

p.Leu17Phefs*11

cDNA level identifier (NM_022912):

c.49delC

Gene level identifier:

g.55858delC

Reference, alternative allele:

AG, A

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

frameshift

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).