Protein level identifier (NP_115785):
p.Leu489Pro
cDNA level identifier (NM_032409):
c.1466T>C
Gene level identifier:
g.15755T>C
Reference, alternative allele:
T, C
Genomic location hg(19)
1:20975702 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
32
Number of all included cases:
1 compound heterozygous (1 in total).