Mutation details:

Protein level identifier (n.a.):

p.Glu3190*

cDNA level identifier (n.a.):

c. 9568G>T

Gene level identifier:

g.177822G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

15:62174851 (not available on ExAC)

Gene name:

VPS13C

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

53

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).