Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.5052_5053insTTTC
p.Thr1685Phefs*4 (Legacy AA No. 1657)
Variant Type:
Insertion
Domain:
d5A3
Location:
Exon 15
Variant Effect:
Frameshift
Codon Change:
5052_5053insTTTC
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Paraboschi et al 2020Severe FV deficiency (<13% FV:C)
Structural Interpretation:
Structural analysis cannot be performed on this (Insertion | Frameshift) variant. c.5054C>G
p.Thr1685Ser (Legacy AA No. 1657)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 15
Variant Effect:
Missense
Codon Change:
5054C>G
No. of Patients Reported:
5
Phenotype:
NA
Association:
Unknown
Allele Count *:
682
Allele Number *:
282160
Allele Frequency *:
0.002417
References and Comments:
NCBI Clinvar Variation ID: 293590NA