Protein level identifier (NP_000104):
p.Ile231Asn
cDNA level identifier (NM_000113):
c.692T>A
Gene level identifier:
g.5559T>A
Reference, alternative allele:
A, T
Genomic location hg(19)
9:132580855 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).