Protein level identifier (n.a.):
p.Thr305_Thr308delinsProIleAlaLeu
cDNA level identifier (n.a.):
c.913_923delins11
Gene level identifier:
g.52134_52144delins11
Reference, alternative allele:
TACAACTGCTAC, TCCAATTGCACT
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).