Data Display Options:
Search Results: 7 unique variants retrieved
c.1681G>A
p.(Asp561Asn) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > AAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.1681G>C
p.(Asp561His) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > CAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.1681G>T
p.(Asp561Tyr) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.1682A>C
p.(Asp561Ala) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GCT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.1682A>G
p.(Asp561Gly) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.1682delA
p.(Asp561Valfs*2) (Legacy AA No.542)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 11
Individual Case Information : Show
c.1683T>A
p.(Asp561Glu) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GAA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):