Protein level identifier (n.a.):
p.Gly540Arg
cDNA level identifier (n.a.):
c.1618G>A
Gene level identifier:
g.311269G>A
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:
1 heterozygous (1 in total).