Protein level identifier (n.a.):

p.Asp470Val

cDNA level identifier (n.a.):

c.1409A>T

Gene level identifier:

g.73354A>T

Reference, alternative allele:

A, 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:

3 heterozygous, 3 compound heterozygous (6 in total).