Protein level identifier (n.a.):
p.Ile1709Thr
cDNA level identifier (n.a.):
c.5126T>C
Gene level identifier:
g.388772T>C
Reference, alternative allele:
A, G
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).