Search Results: 2 unique variants retrieved
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c.6293C>T
p.Pro2098Leu (Legacy AA No. 2070)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 23
Variant Effect:
Missense
Codon Change:
6293C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Asselta et al 2003BNA
c.6293C>G
p.Pro2098Arg (Legacy AA No. 2070)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 23
Variant Effect:
Missense
Codon Change:
6293C>G
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 2020Severe FV deficiency (<13% FV:C)