Protein level identifier (n.a.):

p.Pro97Thr

cDNA level identifier (n.a.):

c.289C>A

Gene level identifier:

g.510C>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).