Mutation details:

Protein level identifier (n.a.):

p.Phe1502del

cDNA level identifier (n.a.):

c.4503_4505delCTT

Gene level identifier:

g.366551_366553delCTT

Reference, alternative allele:

AAAG, A

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

in frame indel

Pathogenicity scoring:

Not available

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).