Protein level identifier (n.a.):

p.Thr415Asn

cDNA level identifier (n.a.):

c.1244C>A

Gene level identifier:

g.1367643C>A

Archive identifier/Other designation:

p.T415N

Reference, alternative allele:

G, T

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:

5 homozygous, 3 compound heterozygous (8 in total).