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  Search Results: 3 unique variants retrieved



  c.6103G>A
p.(Val2035Met) (Legacy AA No.2016)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6104T>G
p.(Val2035Gly) (Legacy AA No.2016)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6104T>C
p.(Val2035Ala) (Legacy AA No.2016)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > GCG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
38
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show