Mutation details:

Protein level identifier (n.a.):

p.Gly173*

cDNA level identifier (n.a.):

c.517G>T

Gene level identifier:

g.1167G>T

Reference, alternative allele:

G, T

Genomic location hg(0)

2:73115655 (not available on ExAC)

Gene name:

SPR

Consequence:

nonsense

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).