Data Display Options:

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

  Search Results: 5 unique variants retrieved



  c.1618C>T
p.(Pro540Ser) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > TCA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1618C>A
p.(Pro540Thr) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > ACA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1619C>G
p.(Pro540Arg) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > CGA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1619delC
p.(Pro540Glnfs*9) (Legacy AA No.521)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 11

Individual Case Information : Show


  c.1619C>T
p.(Pro540Leu) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show