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  Search Results: 2 unique variants retrieved



  c.2175_2176insAAATG
p.(Val727*) (Legacy AA No.708)
Variant Type:
Insertion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
No of bases:
5
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 14

Individual Case Information : Show


  c.2179G>T
p.(Val727Phe) (Legacy AA No.708)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTT > TTT
Variant Effect:
Missense
Location:
Exon 14
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