Protein level identifier (n.a.):
p.Pro374Thr
cDNA level identifier (n.a.):
c.1120C>A
Gene level identifier:
g.63359C>A
Reference, alternative allele:
C, A
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).