Mutation details:

Protein level identifier (n.a.):

p.Gly1389Arg

cDNA level identifier (n.a.):

c.4165G>C

Gene level identifier:

g.101866G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

15:62250807 (not available on ExAC)

Gene name:

VPS13C

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).