Protein level identifier (n.a.):
p.Asp584Val
cDNA level identifier (n.a.):
c.1751A>T
Gene level identifier:
g.90786A>T
Reference, alternative allele:
A, T
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).