Protein level identifier (n.a.):
p.Met1Val
cDNA level identifier (n.a.):
c.1A>G
Gene level identifier:
g.22675A>G
Reference, alternative allele:
T, C
Genomic location hg(0)
22:38565433 (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:
2 compound heterozygous (2 in total).