Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.5594T>G
p.Leu1865Arg (Legacy AA No. 1976)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 17
Variant Effect:
Missense
Codon Change:
5594T>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.6010T>C
p.Trp2004Arg (Legacy AA No. 1976)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 21
Variant Effect:
Missense
Codon Change:
6010T>C
No. of Patients Reported:
3
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Al-Numair et al 2019severe menorrhagia and spontaneous epistaxis