Mutation details:

Protein level identifier (n.a.):

p.Ala15Profs*100

cDNA level identifier (n.a.):

c.43delG

Gene level identifier:

g.116delG

Reference, alternative allele:

GG, G

Genomic location hg(0)

2:73114603 (not available on ExAC)

Gene name:

SPR

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).