Mutation details:

Protein level identifier:

p.Gln45*

cDNA level identifier:

c.133C>T

Genome level identifier:

g.11076C>T

Archive identifier/Other designation:

p.Q45*

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:8025426 (not available on ExAC)

Gene name:

DJ1

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

37

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-DJ1

Number of all included cases:

3 homozygous (3 in total).

×