Protein level identifier (NP_000152):

p.Arg184His

cDNA level identifier (NM_000161):

c.551G>A

Gene level identifier:

g.57010G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55312561 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 4 heterozygous, 2 compound heterozygous (7 in total).