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  Search Results: 3 unique variants retrieved



  c.439G>T
p.(Val147Phe) (Legacy AA No.128)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 4
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.439_447dupGTCTTCCCT
p.(Val147_Pro149dup) (Legacy AA No.128)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 4
No of bases:
9
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Inframe) of mutation at Exon 4

Individual Case Information : Show


  c.440T>A
p.(Val147Asp) (Legacy AA No.128)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > GAC
Variant Effect:
Missense
Location:
Exon 4
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