Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.349G>T
p.Glu117* (Legacy AA No. 77)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Nonsense
Codon Change:
G>T
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Arita et al 2018Variant leads to premature chain termination and resultant protein product is degraded by nonsense-mediated mRNA decay.