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
Positive functional evidence:
not available
Number of all included cases:
53 homozygous, 37 compound heterozygous (90 in total).