Mutation details:

cDNA level identifier (n.a.):

c.596-2A>G

Gene level identifier:

g.3986A>G

Archive identifier/Other designation:

IVS3-2A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

2:73118474 (not available on ExAC)

Gene name:

SPR

Consequence:

splice site

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).