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  Search Results: 7 unique variants retrieved



  c.5590delA
p.(Asp1865Metfs*6) (Legacy AA No.1846)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 17
No of bases:
1
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 17

Individual Case Information : Show


  c.5592dupA
p.(Asp1865Argfs*15) (Legacy AA No.1846)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 17

Individual Case Information : Show


  c.5593G>A
p.(Asp1865Asn) (Legacy AA No.1846)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAT > AAT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5593G>T
p.(Asp1865Tyr) (Legacy AA No.1846)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5594A>G
p.(Asp1865Gly) (Legacy AA No.1846)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5594A>T
p.(Asp1865Val) (Legacy AA No.1846)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAT > GTT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5595T>A
p.(Asp1865Glu) (Legacy AA No.1846)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAT > GAA
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show