Mutation details:

Protein level identifier (NP_056303):

p.Ala7Val

cDNA level identifier (NM_015488):

c.20C>T

Gene level identifier:

g.164C>T

Archive identifier/Other designation:

c.66C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

2:219135278 (not available on ExAC)

Gene name:

PNKD

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

22214848; 25730884;

Number of all included cases:

88 heterozygous (88 in total).

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