Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
Undefined cDNA (Y170*)
p.Tyr170* (Legacy AA No. 130)
Variant Type:
Point
Domain:
Linker
Location:
Exon 6
Variant Effect:
Nonsense
Codon Change:
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Akhavan et al 2007Premature chain termination resulting in production of truncated protein.