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  Search Results: 3 unique variants retrieved



  c.2088_2089delTG
p.(Val697Leufs*33) (Legacy AA No.678)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 13
No of bases:
2
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 13

Individual Case Information : Show


  c.2090T>C
p.(Val697Ala) (Legacy AA No.678)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > GCC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.2090T>A
p.(Val697Asp) (Legacy AA No.678)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > GAC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show