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  Search Results: 6 unique variants retrieved



  c.514T>C
p.(Cys172Arg) (Legacy AA No.153)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGC > CGC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.514_515insTCAAGATA
p.(Cys172Phefs*16) (Legacy AA No.153)
Variant Type:
Insertion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 4
No of bases:
8
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 4

Individual Case Information : Show


  c.515G>T
p.(Cys172Phe) (Legacy AA No.153)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.515G>A
p.(Cys172Tyr) (Legacy AA No.153)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGC > TAC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.516C>A
p.(Cys172*) (Legacy AA No.153)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon 4
No of bases:
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 4

Individual Case Information : Show


  c.516C>G
p.(Cys172Trp) (Legacy AA No.153)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGC > TGG
Variant Effect:
Missense
Location:
Exon 4
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