Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.2938C>T
p.Arg980Cys (Legacy AA No. 952)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2938C>T
No. of Patients Reported:
3
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
35
Allele Number *:
282562
Allele Frequency *:
0.000124
References and Comments:
Huang et al 2010NA
c.2939G>T
p.Arg980Leu (Legacy AA No. 952)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2939G>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
167
Allele Number *:
282554
Allele Frequency *:
0.000591
References and Comments:
NCBI Clinvar Variation ID: 731270NA