Search Results: 4 unique variants retrieved
c.142A>G
p.(Asn48Asp) Legacy AA 2
Variant Type:
Point
Domain:
Gla
cDNA number:
142
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
9
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.142A>T
p.(Asn48Tyr) Legacy AA 2
Variant Type:
Point
Domain:
Gla
cDNA number:
142
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.143A>T
p.(Asn48Ile) Legacy AA 2
Variant Type:
Point
Domain:
Gla
cDNA number:
143
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.143delA
p.(Asn48Ilefs*56) Legacy AA 2
Variant Type:
Deletion
Domain:
Gla
cDNA number:
143
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
1
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