Mutation details:

cDNA level identifier (n.a.):

c.8445+2T>G

Gene level identifier:

g.144843T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

15:62207830 (not available on ExAC)

Gene name:

VPS13C

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).