Protein level identifier (n.a.):

p.Thr67Met

cDNA level identifier (n.a.):

c.200C>T

Gene level identifier:

g.4275C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

11:112101362 (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, 7 compound heterozygous (9 in total).