Mutation details:

Protein level identifier (NP_115785):

p.Ile368Asn

cDNA level identifier (NM_032409):

c.1103T>A

Gene level identifier:

g.12249T>A

Archive identifier/Other designation:

p.I368N

Reference, alternative allele:

T, A

Genomic location hg(0)

1:20972196 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

26

Positive functional evidence:

27091447; 28438176;

Number of all included cases:

2 homozygous (2 in total).

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