Mutation details:

Protein level identifier (NP_056303):

p.Ala9Val

cDNA level identifier (NM_015488):

c.26C>T

Gene level identifier:

g.170C>T

Archive identifier/Other designation:

c.72C>T, c.77C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

2:219135284 (not available on ExAC)

Gene name:

PNKD

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

22214848; 25453601; 25730884;

Number of all included cases:

39 heterozygous (39 in total).