Search Results: 5 unique variants retrieved
c.163T>A
p.(Phe55Ile) (9)
Variant Type:
Point
Domain:
Gla
cDNA number:
163
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.164_173delTTGTTCAAGG
p.(Phe55*) (9)
Variant Type:
Deletion
Domain:
Gla
cDNA number:
164
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
10
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 2.
Individual Case Information :
Show
c.164T>G
p.(Phe55Cys) (9)
Variant Type:
Point
Domain:
Gla
cDNA number:
164
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.164T>C
p.(Phe55Ser) (9)
Variant Type:
Point
Domain:
Gla
cDNA number:
164
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.165_169delTGTTC
p.(Phe55*) (9)
Variant Type:
Deletion
Domain:
Gla
cDNA number:
165
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 2.
Individual Case Information :
Show