Protein level identifier (n.a.):
p.Phe404del
cDNA level identifier (n.a.):
c.1210_1212delTTT
Gene level identifier:
g.64834_64836delTTT
Reference, alternative allele:
CTTT, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).