Data Display Options:

UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :

  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

Please click to see if there is the available information.

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

Individual Case Information : Show