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  Search Results: 6 unique variants retrieved



  c.2161A>C
p.(Met721Leu) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > CTG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.2161A>T
p.(Met721Leu) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > TTG
Variant Effect:
Missense
Location:
Exon 14
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.2161A>G
p.(Met721Val) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 14
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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

Individual Case Information : Show


  c.2162T>C
p.(Met721Thr) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 14
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.2163G>C
p.(Met721Ile) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.2163G>A
p.(Met721Ile) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 14
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