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  Search Results: 3 unique variants retrieved



  c.1948T>G
p.(Leu650Val) (Legacy AA No.631)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > GTG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1950G>T
p.(Leu650Phe) (Legacy AA No.631)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > TTT
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.1950G>C
p.(Leu650Pro) (Legacy AA No.631)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > TTC
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