Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.785C>T
p.Ser262Leu (Legacy AA No. 234)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
785C>T
No. of Patients Reported:
5
Phenotype:
Mild
Association:
FV Deficiency
Allele Count *:
2
Allele Number *:
31386
Allele Frequency *:
0.000064
References and Comments:
Jin et al 2009NA
c.785C>G
p.Ser262Trp (Legacy AA No. 234)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
785C>G
No. of Patients Reported:
2
Phenotype:
Mild
Association:
FV Deficiency
Allele Count *:
2
Allele Number *:
251130
Allele Frequency *:
0.000008
References and Comments:
Caudill et al 2007NA