Protein level identifier (n.a.):
p.Ile129Thr
cDNA level identifier (n.a.):
c.386T>C
Gene level identifier:
g.28004T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).