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  Search Results: 3 unique variants retrieved



  c.6592G>A
p.(Gly2198Arg) (Legacy AA No.2179)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 24
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.6593G>A
p.(Gly2198Glu) (Legacy AA No.2179)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 24
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 24

Individual Case Information : Show


  c.6593G>T
p.(Gly2198Val) (Legacy AA No.2179)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > GTA
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show