Protein level identifier (n.a.):
p.Asp342His
cDNA level identifier (n.a.):
c.1024G>C
Gene level identifier:
g.52528G>C
Reference, alternative allele:
G, C
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).