Protein level identifier (n.a.):

p.Gln34Argfs*10

cDNA level identifier (n.a.):

c.101delA

Gene level identifier:

g.284392delA

Reference, alternative allele:

CT, C

Genomic location hg(19)

Gene name:

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

23 homozygous, 4 compound heterozygous (27 in total).