Mutation details:

Protein level identifier (n.a.):

p.Leu600Glnfs*41

cDNA level identifier (n.a.):

c.1799_1800delTC

Gene level identifier:

g.315754_315755delTC

Reference, alternative allele:

TGA, T

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).