Protein level identifier (NP_060575):
p.Asn75Ile
cDNA level identifier (NM_018105):
c.224A>T
Gene level identifier:
g.4097A>T
Reference, alternative allele:
T, A
Genomic location hg(19)
8:42694372 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).