Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6376G>T
p.Asp2126Tyr (Legacy AA No. 2098)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 24
Variant Effect:
Missense
Codon Change:
6376G>T
No. of Patients Reported:
2
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Delev et al 2008age 65