Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3037C>T
p.Gln1013* (Legacy AA No. 985)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Nonsense
Codon Change:
3037C>T
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
5
Allele Number *:
282572
Allele Frequency *:
0.000018
References and Comments:
Chapla et al 2011bleeding after tooth extraction, easily bruised