Mutation details:

Protein level identifier (n.a.):

p.Val1617Serfs*7

cDNA level identifier (n.a.):

c.4845delG

Gene level identifier:

g.370976delG

Reference, alternative allele:

TC, T

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).