Mutation details:

Protein level identifier (n.a.):

p.Val452_Lys3035del

cDNA level identifier (n.a.):

c.1353+3558_9106-7010delinsGAAGTGC

Archive identifier/Other designation:

deletion of exons 17-66

Genomic location hg(0)

not available

Gene name:

VPS13C

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).