Protein level identifier (NP_075063):
p.Ala27Pro
cDNA level identifier (NM_022912):
c.79G>C
Gene level identifier:
g.55888G>C
Reference, alternative allele:
C, G
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).