Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.833A>G
p.Gln278Arg (Legacy AA No. 250)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
833A>G
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Delev et al 2009bleeding after invasive procedures
c.834G>C
p.Gln278His (Legacy AA No. 250)
Variant Type:
Point
Domain:
d5B
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
834G>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
6
Allele Number *:
251348
Allele Frequency *:
0.000024
References and Comments:
NCBI Clinvar Variation ID: 806280NA