Search Results: 2 unique variants retrieved
c.5622dupT
p.(Leu1875Serfs*5) (Legacy AA No.1856)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 17
Individual Case Information :
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c.5624T>C
p.(Leu1875Pro) (Legacy AA No.1856)
Variant Type:
Point
Domain:
A3
Sequence Context:
CTG > CCG
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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