Mutation details:

Protein level identifier (NP_115785):

p.Glu113Lysfs*45

cDNA level identifier (NM_032409):

c.336delG

Gene level identifier:

g.430delG

Archive identifier/Other designation:

p.E113fs

Reference, alternative allele:

AG, A

Genomic location hg(0)

1:20960376 (not available on ExAC)

Gene name:

PINK1

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

30

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).