Protein level identifier (NP_071372):
p.Phe182Leu
cDNA level identifier (NM_022089):
c.546C>A
Gene level identifier:
g.7586C>A
Reference, alternative allele:
G, T
Genomic location hg(0)
1:17330838 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
29
Number of all included cases:
1 homozygous (1 in total).