Protein level identifier (NP_075063):
p.Ile70Arg
cDNA level identifier (NM_022912):
c.209T>G
Gene level identifier:
g.83296T>G
Reference, alternative allele:
A, C
Genomic location hg(19)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).