Protein level identifier (n.a.):

p.Pro437Leu

cDNA level identifier (n.a.):

c.1310C>T

Gene level identifier:

g.1377585C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous, 1 heterozygous, 13 compound heterozygous (17 in total).