Mutation details:

Protein level identifier (NP_075063):

p.Leu68*

cDNA level identifier (NM_022912):

c.202_203delCTinsTA

Gene level identifier:

g.83289_83290delCTinsTA

Reference, alternative allele:

TAG, TTA

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

nonsense

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).