Protein level identifier (n.a.):
p.Val56Glu
cDNA level identifier (n.a.):
c.167T>A
Gene level identifier:
g.284458T>A
Archive identifier/Other designation:
268T>A
Reference, alternative allele:
A, T
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
9 compound heterozygous (9 in total).