Search Results: 2 unique variants retrieved
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c.4744T>A
p.Tyr1582Asn (Legacy AA No. 1554)
Variant Type:
Point
Domain:
dA3
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4744T>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
NCBI Clinvar Variation ID: 627318NA
c.4745A>G
p.Tyr1582Cys (Legacy AA No. 1554)
Variant Type:
Point
Domain:
dA3
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4745A>G
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Moret et al 2019NA