Protein level identifier (n.a.):
p.Glu442_Val443del
cDNA level identifier (n.a.):
c.1326_1331delAGTTGA
Gene level identifier:
g.73271_73276delAGTTGA
Reference, alternative allele:
AAGTTGA, A
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).