Mutation details:

Protein level identifier (NP_075063):

p.Tyr35Cysfs*32

cDNA level identifier (NM_022912):

c.104_105delAT

Gene level identifier:

g.55913_55914delAT

Reference, alternative allele:

CAT, C

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).

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