Protein level identifier (n.a.):

p.Thr240Met

cDNA level identifier (n.a.):

c.719C>T

Gene level identifier:

g.754455C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 15 compound heterozygous (16 in total).