Mutation details:

Protein level identifier (n.a.):

p.Met1?

cDNA level identifier (n.a.):

c.1A>G

Gene level identifier:

g.74A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

2:73114562 (not available on ExAC)

Gene name:

SPR

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).