Protein level identifier (n.a.):

p.Pro45Gln

cDNA level identifier (n.a.):

c.134C>A

Gene level identifier:

g.355C>A

Reference, alternative allele:

C, A

Genomic location

not available

Gene name:

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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