Protein level identifier (n.a.):
p.Arg1667Trp
cDNA level identifier (n.a.):
c.4999C>T
Gene level identifier:
g.388306C>T
Reference, alternative allele:
G, A
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:
2 heterozygous (2 in total).