Mutation details:

Protein level identifier (NP_075063):

p.Pro171Hisfs*52

cDNA level identifier (NM_022912):

c.512delC

Gene level identifier:

g.105376delC

Archive identifier/Other designation:

prolonged protein

Reference, alternative allele:

TG, T

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:

13 heterozygous (13 in total).