Protein level identifier (n.a.):
p.Leu337Gln
cDNA level identifier (n.a.):
c.1010T>A
Gene level identifier:
g.59203T>A
Reference, alternative allele:
A, T
Genomic location hg(0)
22:38528905 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).