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  Search Results: 5 unique variants retrieved



  c.336_339dupCCAT
p.(Val115Serfs*16) (Legacy AA No.96)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 3
No of bases:
4
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 3

Individual Case Information : Show


  c.343G>C
p.(Val115Leu) (Legacy AA No.96)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > CTC
Variant Effect:
Missense
Location:
Exon 3
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.343G>T
p.(Val115Phe) (Legacy AA No.96)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 3
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.344T>C
p.(Val115Ala) (Legacy AA No.96)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > GCC
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.344T>G
p.(Val115Gly) (Legacy AA No.96)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 3
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 | Missense ) of mutation at Exon 3

Individual Case Information : Show