Mutation details:

Protein level identifier (NP_075063):

p.Arg113*

cDNA level identifier (NM_022912):

c.337C>T

Gene level identifier:

g.86047C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).

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