Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.22G>T
p.Val8Phe (Legacy AA No. -33)
Variant Type:
Point
Domain:
Pre-pro leader
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mota et al 2010Variant likely damages protein function.