Protein level identifier (NP_115785):

p.Glu240Lys

cDNA level identifier (NM_032409):

c.718G>A

Gene level identifier:

g.6480G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

Number of all included cases:

1 homozygous, 1 compound heterozygous (2 in total).