Protein level identifier (n.a.):
p.His289Glnfs*8
cDNA level identifier (n.a.):
c.867_868delTA
Gene level identifier:
g.51212_51213delTA
Reference, alternative allele:
ATA, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).