Mutation details:

Protein level identifier (NP_075063):

p.Gly122Glyfs*46

cDNA level identifier (NM_022912):

c.366G>T

Gene level identifier:

g.86076G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

splice site

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).

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