Protein level identifier (NP_060676):
p.Leu774Met
cDNA level identifier (NM_018206):
c.2320C>A
Gene level identifier:
g.28976C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
7 heterozygous, 1 compound heterozygous (8 in total).