Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6492G>C
p.Trp2164Cys (Legacy AA No. 2136)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 24
Variant Effect:
Missense
Codon Change:
6492G>C
No. of Patients Reported:
1
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2020hymen rupture needing blood transfusion; menorrhagia, extreme gum bleeding