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  Search Results: 3 unique variants retrieved



  c.5500T>G
p.(Tyr1834Asp) (Legacy AA No.1815)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAC > GAC
Variant Effect:
Missense
Location:
Exon 16
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.5501dupA
p.(Trp1834*) (Legacy AA No.1815)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 16

Individual Case Information : Show


  c.5501A>G
p.(Tyr1834Cys) (Legacy AA No.1815)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show