Protein level identifier (n.a.):
p.Arg1673Pro
cDNA level identifier (n.a.):
c.5018G>C
Gene level identifier:
g.388325G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Not available
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).