Protein level identifier (n.a.):
p.Gly484_Thr486del
cDNA level identifier (n.a.):
c.1450_1458delGGTGCAACT
Gene level identifier:
g.73535_73543delGGTGCAACT
Reference, alternative allele:
GGGTGCAACT, G
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:
1 heterozygous, 1 compound heterozygous (2 in total).