Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1000A>G
p.Arg334Gly (Legacy AA No. 306)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
1000A>G
No. of Patients Reported:
3
Phenotype:
NA
Association:
thrombosis
Allele Count *:
183
Allele Number *:
282770
Allele Frequency *:
0.000647
References and Comments:
Chan et al 1998first of two thrombotic cases and one non-thrombotic case from survey
c.1001G>C
p.Arg334Thr (Legacy AA No. 306)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
1001G>C
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
thrombosis
Allele Count *:
57
Allele Number *:
251352
Allele Frequency *:
0.000227
References and Comments:
Williamson et al 199847 years old; spontaneous proximal DVT