Protein level identifier (NP_071372):
p.Leu1059Arg
cDNA level identifier (NM_022089):
c.3176T>G
Gene level identifier:
g.25065T>G
Reference, alternative allele:
A, C
Genomic location hg(0)
1:17313359 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
25
Number of all included cases:
2 compound heterozygous (2 in total).