Mutation details:

Protein level identifier (NP_115785):

p.Lys24Glyfs*31

cDNA level identifier (NM_032409):

c.70_101del

Gene level identifier:

g.164_195del

Archive identifier/Other designation:

p.Lys24fsX54

Reference, alternative allele:

CAAGCCCGGCCGGGCCTACGGCTTGGGGCGGCC, C

Genomic location hg(0)

1:20960110 (not available on ExAC)

Gene name:

PINK1

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

28

Positive functional evidence:

not available

Number of all included cases:

3 compound heterozygous (3 in total).

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