Protein level identifier (NP_055542):
p.Leu1781Pro
cDNA level identifier (NM_014727):
c.5342T>C
Gene level identifier:
g.12753T>C
Reference, alternative allele:
T, C
Genomic location hg(0)
19:36221673 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).