Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1A>G
p.Met1Val (Legacy AA No. -40)
Variant Type:
Point
Domain:
Pre-pro leader
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
A>G
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
1
Allele Number *:
31396
Allele Frequency *:
0.000032
References and Comments:
Miyata et al 1998Variant eliminates ATG start codon preventing the initiation of FX translation (FX Nice I).