Protein level identifier (n.a.):

p.Cys431Phe

cDNA level identifier (n.a.):

c.1292G>T

Gene level identifier:

g.1377567G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

6:161771237 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous, 1 compound heterozygous (3 in total).