Protein level identifier (n.a.):
p.Met534Ile
cDNA level identifier (n.a.):
c.1602G>A
Gene level identifier:
g.71202G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38516906 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).