Mutation details:

Protein level identifier (NP_009193):

p.Ile105Phe

cDNA level identifier (NM_007262):

c.313A>T

Gene level identifier:

g.16664A>T

Archive identifier/Other designation:

p.I105F

Reference, alternative allele:

A, T

Genomic location hg(19)

1:8031014 (not available on ExAC)

Gene name:

DJ1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).