Protein level identifier (n.a.):
p.Ile153Metfs*8
cDNA level identifier (n.a.):
c.458delT
Gene level identifier:
g.23924delT
Reference, alternative allele:
AT, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).