Mutation details:

Protein level identifier (NP_115785):

p.Ala168Pro

cDNA level identifier (NM_032409):

c.502G>C

Gene level identifier:

g.4502G>C

Archive identifier/Other designation:

p.A168P

Reference, alternative allele:

G, C

Genomic location hg(0)

1:20964449 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

27

Positive functional evidence:

20126261; 22910362; 23459931; 24189060;

Number of all included cases:

4 homozygous (4 in total).

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