Mutation details:

Protein level identifier:

p.Ala9Val

cDNA level identifier:

c.26C>T

Genome level identifier:

g.170C>T

Archive identifier/Other designation:

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

Reference, alternative allele:

C, T

Genetic location (hg19):

chr2:219135284 (not available on ExAC)

Gene name:

PNKD

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

29

Positive functional evidence:

22214848; 25453601; 25730884

Diseases reported for this mutation:

PxMD-PNKD

Number of all included cases:

39 heterozygous (39 in total).

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