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  Search Results: 2 unique variants retrieved



  c.38T>G
p.(Leu13Arg) (Legacy AA No.-7)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 1
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 1

Individual Case Information : Show


  c.38T>C
p.(Leu13Pro) (Legacy AA No.-7)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CTT > CCT
Variant Effect:
Missense
Location:
Exon 1
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show