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  Search Results: 5 unique variants retrieved



  c.2130dupG
p.(Cys711Valfs*19) (Legacy AA No.692)
Variant Type:
Point
Domain:
A2
Sequence Context:
>
Variant Effect:
Nonsense
Location:
Exon 14
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 (Point | Nonsense) of mutation at Exon 14

Individual Case Information : Show


  c.2131T>C
p.(Cys711Arg) (Legacy AA No.692)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > CGC
Variant Effect:
Missense
Location:
Exon 14
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.2132G>T
p.(Cys711Phe) (Legacy AA No.692)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon 14
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.2132G>A
p.(Cys711Tyr) (Legacy AA No.692)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > TAC
Variant Effect:
Missense
Location:
Exon 14
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.2133C>A
p.(Cys711*) (Legacy AA No.692)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon 14
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 (Point | Nonsense) of mutation at Exon 14

Individual Case Information : Show