Protein level identifier (n.a.):
p.Lys161Asn
cDNA level identifier (n.a.):
c.483A>T
Gene level identifier:
g.526590A>T
Reference, alternative allele:
T, A
Genomic location hg(19)
6:162622214 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 compound heterozygous (2 in total).