Protein level identifier (n.a.):

p.Asn52Metfs*29

cDNA level identifier (n.a.):

c.155delA

Gene level identifier:

g.284446delA

Archive identifier/Other designation:

p.Arg50fs(+28aa), p.Asn52/X80, p.Asn52/Stop81, 255delA

Reference, alternative allele:

AT, A

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:

53 homozygous, 37 compound heterozygous (90 in total).