Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.2425C>T
p.Pro809Ser (Legacy AA No. 781)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2425C>T
No. of Patients Reported:
5
Phenotype:
NA
Association:
Unknown
Allele Count *:
2280
Allele Number *:
282716
Allele Frequency *:
0.008065
References and Comments:
NCBI Clinvar Variation ID: 255198NA
c.2426delC
p.Pro809Hisfs*2 (Legacy AA No. 781)
Variant Type:
Deletion
Domain:
d5B
Location:
Exon 13
Variant Effect:
Frameshift
Codon Change:
2426delC
No. of Patients Reported:
2
Phenotype:
Mild
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Park et al 2019NA