Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.33T>G
p.Ser11Arg (Legacy AA No. -30)
Variant Type:
Point
Domain:
Pre-pro leader
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
T>G
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Yin, Wang and Wang 2001; Wang et al 2005Variant prevents translocation of FX to ER and the subsequent PTM (FX Shanghai). Legacy cDNA numbering in Wang paper - Leytus et al 1986 (c.58T>G)