Protein level identifier (n.a.):
p.Phe151Ser
cDNA level identifier (n.a.):
c.452T>C
Gene level identifier:
g.59061T>C
Reference, alternative allele:
T, C
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
29
Positive functional evidence:
Number of all included cases:
3 heterozygous (3 in total).