Protein level identifier (n.a.):
p.Phe1387Cys
cDNA level identifier (n.a.):
c.4160A>G
Gene level identifier:
g.362448T>A
Reference, alternative allele:
A, C
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).