Mutation details:

Protein level identifier (n.a.):

p.Ala176Val

cDNA level identifier (n.a.):

c.527C>T

Gene level identifier:

g.1177C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

2:73115665 (not available on ExAC)

Gene name:

SPR

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).