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  Search Results: 4 unique variants retrieved



  c.757G>T
p.(Val253Phe) (Legacy AA No.234)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.758T>C
p.(Val253Ala) (Legacy AA No.234)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > GCC
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.758T>A
p.(Val253Asp) (Legacy AA No.234)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > GAC
Variant Effect:
Missense
Location:
Exon 6
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


  c.758T>G
p.(Val253Gly) (Legacy AA No.234)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 6
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 6

Individual Case Information : Show