Protein level identifier (n.a.):
p.Leu360Val
cDNA level identifier (n.a.):
c.1078C>G
Gene level identifier:
g.52582C>G
Reference, alternative allele:
C, G
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).