Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.523T>C
p.Gln175* (Legacy AA No. 135)
Variant Type:
Point
Domain:
Linker
Location:
Exon 6
Variant Effect:
Nonsense
Codon Change:
T>C
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Borhany et al 2018Premature chain termination - lack of functional circulating FX.