Protein level identifier (n.a.):
p.Phe381Leu
cDNA level identifier (n.a.):
c.1141T>C
Gene level identifier:
g.63380T>C
Reference, alternative allele:
T, C
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous (6 in total).