Protein level identifier (NP_075063):
p.Pro19Arg
cDNA level identifier (NM_022912):
c.56C>G
Gene level identifier:
g.55865C>G
Reference, alternative allele:
G, C
Genomic location hg(19)
not available
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).