Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6182G>A
p.Cys2061Tyr (Legacy AA No. 2033)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 22
Variant Effect:
Missense
Codon Change:
6182G>A
No. of Patients Reported:
2
Phenotype:
Moderate
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
251188
Allele Frequency *:
0.000004
References and Comments:
Paraboschi et al 2020abdominal blood stagnation and haematoma following vitamin K injection at birth