Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.434G>A
p.Gly145Asp (Legacy AA No. 117)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
434G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
4
Allele Number *:
251334
Allele Frequency *:
0.000016
References and Comments:
NCBI Clinvar Variation ID: 1312861NA
c.434delG
p.Gly145Alafs*34 (Legacy AA No. 117)
Variant Type:
Deletion
Domain:
d5A1
Location:
Exon 4
Variant Effect:
Frameshift
Codon Change:
434delG
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Traynis et al 2006FVII deficiency (38% FVII:C) with paternal inheritance; microscopic haematuria