Protein level identifier (n.a.):
p.Arg415Trp
cDNA level identifier (n.a.):
c.1243C>T
Gene level identifier:
g.95646C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
9 heterozygous (9 in total).