Protein level identifier (NP_000152):

p.Gly108Asp

cDNA level identifier (NM_000161):

c.323G>A

Gene level identifier:

g.512G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55369059 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous, 1 compound heterozygous (4 in total).