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  Search Results: 5 unique variants retrieved



  c.6622C>T
p.(Gln2208*) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon 24
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 24

Individual Case Information : Show


  c.6622C>G
p.(Gln2208Glu) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > GAG
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
28
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6623A>G
p.(Gln2208Arg) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > CGG
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6623A>C
p.(Gln2208Pro) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > CCG
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6623_6625delAGA
p.(Gln2208_Ile2209delinsLeu) (Legacy AA No.2189)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 24
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 24

Individual Case Information : Show