Protein level identifier (NP_000152):

p.Val204Ile

cDNA level identifier (NM_000161):

c.610G>A

Gene level identifier:

g.57069G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55312502 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous, 2 compound heterozygous (7 in total).