Protein level identifier (n.a.):
p.Thr490Alafs*18
cDNA level identifier (n.a.):
c.1462_1463insTG
Gene level identifier:
g.95865_95866insTG
Reference, alternative allele:
C, CTG
Genomic location hg(0)
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).