Protein level identifier (n.a.):

p.Cys253Tyr

cDNA level identifier (n.a.):

c.758G>A

Gene level identifier:

g.941887G>A

Reference, alternative allele:

C, 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:

1 homozygous, 9 compound heterozygous (10 in total).