Data Display Options:
Search Results: 5 unique variants retrieved
c.763_785dup
p.(Pro262Argfs*30) (Legacy AA No.243)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 6
No of bases:
23
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 6
Individual Case Information : Show
c.785delC
p.(Pro262Glnfs*3) (Legacy AA No.243)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 6
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 (Deletion | Frameshift) of mutation at Exon 6
Individual Case Information : Show
c.785C>T
p.(Pro262Leu) (Legacy AA No.243)
Variant Type:
Point
Domain:
A1
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.786_787+3delAGgtainsTGT
p.(Pro262?) (Legacy AA No.243)
Variant Type:
Indel
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Exon 6
No of bases:
5
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Indel | Splice) of mutation at Exon 6
Individual Case Information : Show
c.786A>C
p.(Pro262Pro) (Legacy AA No.243)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Exon 6
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 (Point | Splice) of mutation at Exon 6