Mutation details:

Protein level identifier (NP_075063):

p.Trp42*

cDNA level identifier (NM_022912):

c.125G>A

Gene level identifier:

g.74062G>A

Reference, alternative allele:

C, T

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).

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