Mutation details:

Protein level identifier (NP_075063):

p.Arg177Glyfs*46

cDNA level identifier (NM_022912):

c.528delG

Gene level identifier:

g.105392delG

Archive identifier/Other designation:

prolonged protein

Reference, alternative allele:

GC, G

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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