Protein level identifier (n.a.):

p.Ser44Leu

cDNA level identifier (n.a.):

c.131C>T

Gene level identifier:

g.352C>T

Reference, alternative allele:

C, T

Genomic location

not available

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous, 5 compound heterozygous, 2 n.a. (14 in total).