Protein level identifier (n.a.):
p.Asn658Lys
cDNA level identifier (n.a.):
c.1974C>A
Gene level identifier:
g.76514C>A
Reference, alternative allele:
G, T
Genomic location hg(0)
22:38511594 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).