Protein level identifier (NP_055542):
p.Phe1662Leu
cDNA level identifier (NM_014727):
c.4986C>A
Gene level identifier:
g.12016C>A
Reference, alternative allele:
C, A
Genomic location hg(0)
19:36220936 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).