Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.290A>C
p.Asn97Thr (Legacy AA No. 57)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
A>C
No. of Patients Reported:
0
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Kim et al 1995(FX Wenatchee II). Legacy cDNA numbering in paper - unknown origin (c.9338A>C)