Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
Undefined cDNA - deletion (D408del)
p.Asp408del-
Variant Type:
Deletion
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Inframe
Codon Change:
delGAC
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Zhou et al 2013Mutant FX lacks catalytic activity due to conformational change and reduced affintiy for Na+ binding. Note: Zhou et al 2013 refer to this variant as Asp409del, but according to HGVS nomenclature this variant is instead Asp408del.
Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Inframe) variant. c.1222G>A
p.Asp408Asn (Legacy AA No. 368)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
14
Allele Number *:
282332
Allele Frequency *:
0.000050