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  Search Results: 2 unique variants retrieved



  c.2008G>C
p.(Val670Leu) (Legacy AA No.651)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > CTC
Variant Effect:
Missense
Location:
Exon 13
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.2009_2011delTCT
p.(Val670del) (Legacy AA No.651)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 13
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 13

Individual Case Information : Show