Protein level identifier (n.a.):
p.Met192Val
cDNA level identifier (n.a.):
c.574A>G
Gene level identifier:
g.673637A>G
Reference, alternative allele:
T, C
Genomic location hg(19)
6:162475167 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).