Protein level identifier (NP_006740):
p.Leu108Pro
cDNA level identifier (NM_006749):
c.323T>C
Gene level identifier:
g.73668T>C
Archive identifier/Other designation:
p.L108P
Reference, alternative allele:
A, G
Genomic location hg(19)
8:42323402 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).