Protein level identifier (n.a.):
p.Asp470Val
cDNA level identifier (n.a.):
c.1409A>T
Gene level identifier:
g.73354A>T
Reference, alternative allele:
A, T
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous, 3 compound heterozygous (6 in total).