Protein level identifier (n.a.):
p.Thr240Met
cDNA level identifier (n.a.):
c.719C>T
Gene level identifier:
g.754455C>T
Archive identifier/Other designation:
820C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous, 15 compound heterozygous (16 in total).