Mutation details:

Protein level identifier (NP_115785):

p.Glu417_Arg497del

cDNA level identifier (NM_032409):

c.1252-52_1488+6del

Gene level identifier:

g.15489-15783del

Archive identifier/Other designation:

deletion of exon 7

Reference, alternative allele:

GAAAAGGTTAGATGGGCGGGCAGCGTGATGTCTCACCCACTGCTTCTGAGCAGGTGTCCACGGCCCGTCCTGGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGAGCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCAGACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGGTGAGG, G

Genomic location hg(19)

1:20975435 (not available on ExAC)

Gene name:

PINK1

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 compound heterozygous (5 in total).