Protein level identifier (n.a.):
p.Asp302Asn
cDNA level identifier (n.a.):
c.904G>A
Gene level identifier:
g.264311G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
30
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous, 2 compound heterozygous (8 in total).