Mutation details:

Protein level identifier (NP_075063):

p.Pro19Arg

cDNA level identifier (NM_022912):

c.56C>G

Gene level identifier:

g.55865C>G

Reference, alternative allele:

G, C

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:

1 heterozygous (1 in total).

×