Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.15T>A
p.Tyr5* (Legacy AA No. -14)
Variant Type:
Point
Domain:
Signal Peptide
Codon Change:
T>A
Variant Effect:
Nonsense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-