Protein level identifier (n.a.):
p.Leu380His
cDNA level identifier (n.a.):
c.1139T>A
Gene level identifier:
g.63378T>A
Reference, alternative allele:
T, A
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:
2 heterozygous (2 in total).