Search Results: 6 unique variants retrieved
c.517G>A
p.(Ala173Thr) (127)
Variant Type:
Point
Domain:
Linker
cDNA number:
517
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.518_520del
p.(Ala173del) (127)
Variant Type:
Deletion
Domain:
Linker
cDNA number:
518
Variant Effect:
Inframe
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Inframe) of variant at Exon 5.
Individual Case Information :
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c.518C>T
p.(Ala173Val) (127)
Variant Type:
Point
Domain:
Linker
cDNA number:
518
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.519A>C
p.(Ala173Ala) (127)
Variant Type:
Point
Domain:
Linker
cDNA number:
519
Variant Effect:
Silent
Location:
Exon(5)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Silent) of variant at Exon 5.
Individual Case Information :
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c.519A>G
p.(Ala173Ala) (127)
Variant Type:
Point
Domain:
Linker
cDNA number:
519
Variant Effect:
Silent
Location:
Exon(5)
CpG:
N
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Silent) of variant at Exon 5.
Individual Case Information :
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c.519A>T
p.(Ala173Ala) (127)
Variant Type:
Point
Domain:
Linker
cDNA number:
519
Variant Effect:
Silent
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Silent) of variant at Exon 5.
Individual Case Information :
Show