Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.295G>C
p.Gly99Arg (Legacy AA No. 59)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
G>C
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mota et al 2010Variant likely induces steric clash and destabilizes the FX structure. Legacy cDNA numbering in paper - unknown origin (c.285G>C)