Protein level identifier (NP_075063):
p.Ala20Glu
cDNA level identifier (NM_022912):
c.59C>A
Gene level identifier:
g.55868C>A
Reference, alternative allele:
G, T
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:
9 heterozygous (9 in total).