Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.6212delG
p.Gly2071Valfs*7 (Legacy AA No. 2043)
Variant Type:
Deletion
Domain:
d5C2
Location:
Exon 23
Variant Effect:
Frameshift
Codon Change:
6212delG
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
thrombosis
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Simioni et al 2005VTE
Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.6212G>T
p.Gly2071Val (Legacy AA No. 2043)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 23
Variant Effect:
Missense
Codon Change:
6212G>T
No. of Patients Reported:
4
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Bafunno et al 2012recurrent epistaxis