Protein level identifier (n.a.):
p.Asn579His
cDNA level identifier (n.a.):
c.1735A>C
Gene level identifier:
g.90770A>C
Reference, alternative allele:
A, C
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous, 1 compound heterozygous (3 in total).