Mutation details:

Protein level identifier (n.a.):

p.Trp124Arg

cDNA level identifier (n.a.):

c.370T>C

Gene level identifier:

g.1020T>C

Reference, alternative allele:

T, C

Genomic location hg(0)

2:73115508 (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:

2 homozygous (2 in total).