Protein level identifier (NP_006740):
p.Pro184Leu
cDNA level identifier (NM_006749):
c.551C>T
Gene level identifier:
g.79594C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
8:42317476 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).