Protein level identifier (NP_115785):
p.Leu369Pro
cDNA level identifier (NM_032409):
c.1106T>C
Gene level identifier:
g.12252T>C
Reference, alternative allele:
T, C
Genomic location hg(19)
1:20972199 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
Number of all included cases:
2 compound heterozygous (2 in total).