Protein level identifier (n.a.):
p.Cys238Trp
cDNA level identifier (n.a.):
c.714C>G
Gene level identifier:
g.754450C>G
Reference, alternative allele:
G, 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:
3 compound heterozygous (3 in total).