Mutation details:

Protein level identifier:

p.Ala33Pro

cDNA level identifier:

c.97G>C

Genome level identifier:

g.1019G>C

Reference, alternative allele:

G, C

Genetic location (hg19):

chr2:219136133

Gene name:

PNKD

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

24

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-PNKD

Number of all included cases:

1 heterozygous (1 in total).

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