Protein level identifier (NP_115785):
p.Glu240Lys
cDNA level identifier (NM_032409):
c.718G>A
Gene level identifier:
g.6480G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Number of all included cases:
1 homozygous, 1 compound heterozygous (2 in total).