Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.2234A>G
p.Asn745Ser (Legacy AA No. 717)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2234A>G
No. of Patients Reported:
2
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Baz et al 2021NA
c.2235T>C
p.Asn745Asn (Legacy AA No. 717)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Silent
Codon Change:
2235T>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
thrombosis
Allele Count *:
77253
Allele Number *:
282508
Allele Frequency *:
0.273454
References and Comments:
Kostka et al 2000NA