Protein level identifier (n.a.):
p.Pro97Thr
cDNA level identifier (n.a.):
c.289C>A
Gene level identifier:
g.510C>A
Reference, alternative allele:
C, A
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
15
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous, 1 compound heterozygous (2 in total).