Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.910G>A
p.Gly304Arg (Legacy AA No. 276)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
910G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
1
Allele Number *:
251414
Allele Frequency *:
0.000004
References and Comments:
NCBI Clinvar Variation ID: 806279NA
c.911G>A
p.Gly304Glu (Legacy AA No. 276)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
911G>A
No. of Patients Reported:
2
Phenotype:
Mild
Association:
FV Deficiency
Allele Count *:
4
Allele Number *:
251412
Allele Frequency *:
0.000016
References and Comments:
Delev et al 2009bleeding after invasive procedures