Mutation details:

Protein level identifier (n.a.):

p.Gln1593Lysfs*7

cDNA level identifier (n.a.):

c.4777delC

Gene level identifier:

g.113182_113182delC

Reference, alternative allele:

TG, T

Genomic location hg(0)

15:62239490 (not available on ExAC)

Gene name:

VPS13C

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).