Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1673A>C
p.Tyr558Ser (Legacy AA No. 530)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 11
Variant Effect:
Missense
Codon Change:
1673A>C
No. of Patients Reported:
4
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
31386
Allele Frequency *:
0.000032
References and Comments:
Xie et al 2001NA
c.1674C>A
p.Tyr558* (Legacy AA No. 530)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 11
Variant Effect:
Nonsense
Codon Change:
1674C>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
1
Allele Number *:
31386
Allele Frequency *:
0.000032
References and Comments:
NCBI Clinvar Variation ID: 666966NA