Protein level identifier (n.a.):
p.Ile580Aspfs*10
cDNA level identifier (n.a.):
c.1738_1740delinsGA
Gene level identifier:
g.90773_90775delinsGA
Reference, alternative allele:
TATT, TGA
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).