Mutation details:

Protein level identifier (NP_075063):

p.Gly140Alafs*22

cDNA level identifier (NM_022912):

c.595+1G>A

Gene level identifier:

g.105460G>A

Archive identifier/Other designation:

deletion of exon 6

Reference, alternative allele:

C, T

Genomic location hg(19)

not available

Gene name:

REEP1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).