Protein level identifier (n.a.):
p.Leu617Val
cDNA level identifier (n.a.):
c.1849C>G
Gene level identifier:
g.315804C>G
Reference, alternative allele:
G, C
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).