Mutation details:

Protein level identifier (n.a.):

p.Thr240Ala

cDNA level identifier (n.a.):

c.718A>G

Gene level identifier:

g.754454A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

6:162394350 (not available on ExAC)

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

×