Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.6604C>T
p.Arg2202Cys (Legacy AA No. 2174)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 25
Variant Effect:
Missense
Codon Change:
6604C>T
No. of Patients Reported:
4
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
5
Allele Number *:
282336
Allele Frequency *:
0.000018
References and Comments:
Al-Numair et al 2019severe menorrhagia and anaemia
c.6605G>T
p.Arg2202Leu (Legacy AA No. 2174)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 25
Variant Effect:
Missense
Codon Change:
6605G>T
No. of Patients Reported:
1
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Shinozawa et al 2007very mild bleeding tendency after operation