Mutation details:

Protein level identifier (NP_115785):

p.Tyr29Argfs*71

cDNA level identifier (NM_032409):

c.85_106delTACGGCTTGGGGCGGCCGGGCC

Gene level identifier:

g.179_200delTACGGCTTGGGGCGGCCGGGCC

Archive identifier/Other designation:

p.Y29Rfs*71

Reference, alternative allele:

CTACGGCTTGGGGCGGCCGGGCC, C

Genomic location hg(0)

1:20960125 (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:

1 homozygous (1 in total).

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