Protein level identifier (NP_060575):
p.Leu180Ser
cDNA level identifier (NM_018105):
c.539T>C
Gene level identifier:
g.5261T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
8:42693208 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
Number of all included cases:
1 heterozygous (1 in total).