Protein level identifier (n.a.):
p.Arg1751Trp
cDNA level identifier (n.a.):
c.5251C>T
Gene level identifier:
g.389069C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
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).