Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.2743_2744delAC
p.Thr915Trpfs*14 (Legacy AA No. 887)
Variant Type:
Deletion
Domain:
d5B
Location:
Exon 13
Variant Effect:
Frameshift
Codon Change:
2743_2744delAC
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Montefusco et al 2000Aage 2, severe GI bleeding, epistaxis
Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.2744C>G
p.Thr915Ser (Legacy AA No. 887)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2744C>G
No. of Patients Reported:
1
Phenotype:
NA
Association:
thrombosis
Allele Count *:
3811
Allele Number *:
282368
Allele Frequency *:
0.013497
References and Comments:
Smith et al 2007NA