Protein level identifier (NP_001073136):

p.Val235Phe

cDNA level identifier (NM_001079668):

c.703G>T

Gene level identifier:

g.3369G>T

Archive identifier/Other designation:

p. Val205Phe

Reference, alternative allele:

C, A

Genomic location hg(19)

14:36986986 (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:

5 heterozygous, 1 compound heterozygous (6 in total).