Protein level identifier (n.a.):
p.Trp100Gly
cDNA level identifier (n.a.):
c.298T>G
Gene level identifier:
g.27916T>G
Reference, alternative allele:
A, C
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).