Protein level identifier (n.a.):
p.Asn510Ile
cDNA level identifier (n.a.):
c.1529A>T
Gene level identifier:
g.78329A>T
Reference, alternative allele:
A, T
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).