Protein level identifier (n.a.):
p.Ser575Ile
cDNA level identifier (n.a.):
c.1724G>T
Gene level identifier:
g.83644G>T
Reference, alternative allele:
G, T
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).