Mutation details:

Protein level identifier (NP_075063):

p.Ser179Argfs*43

cDNA level identifier (NM_022912):

c.537_540delCGGC

Gene level identifier:

g.105401_105404delCGGC

Reference, alternative allele:

TGCCG, T

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:

14 heterozygous (14 in total).