Protein level identifier (NP_002599):
p.Leu119Pro
cDNA level identifier (NM_002608):
c.356T>C
Gene level identifier:
g.13030T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
22:39627727 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
2 heterozygous (2 in total).