Protein level identifier (n.a.):
p.Arg583Gln
cDNA level identifier (n.a.):
c.1748G>A
Gene level identifier:
g.315539G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Not available
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
30 heterozygous (30 in total).