Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.43G>A
p.Gly15Ser (Legacy AA No. -13)
Variant Type:
Point
Domain:
Signal Peptide
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
43G>A
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
1735
Allele Number *:
282320
Allele Frequency *:
0.006146
References and Comments:
NCBI Clinvar Variation ID: 293644NA
c.44G>A
p.Gly15Asp (Legacy AA No. -13)
Variant Type:
Point
Domain:
Signal Peptide
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
44G>A
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2020>13% FV:C; major bleeding events not observed