Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.430C>T
p.Gln144* (Legacy AA No. 104)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Nonsense
Codon Change:
C>T
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Bang et al 2012Variant results in premature chain termination. Legacy cDNA numbering in paper - unknown origin (c.310C>T)