Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.578G>C
p.Cys193Ser (Legacy AA No. 165)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
578G>C
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
251296
Allele Frequency *:
0.000004
References and Comments:
Nuzzo et al 2015Amuscle caused by mild trauma needing fresh frozen plasma treatment