Data Display Options:

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

  Search Results: 7 unique variants retrieved



  c.1456_1462dupAATCAAG
p.(Ala488Glufs*8) (Legacy AA No.469)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 10
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 (Duplication | Frameshift) of mutation at Exon 10

Individual Case Information : Show


  c.1462G>C
p.(Ala488Pro) (Legacy AA No.469)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCA > CCA
Variant Effect:
Missense
Location:
Exon 10
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.1462G>A
p.(Ala488Thr) (Legacy AA No.469)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCA > ACA
Variant Effect:
Missense
Location:
Exon 10
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.1463C>A
p.(Ala488Glu) (Legacy AA No.469)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCA > GAA
Variant Effect:
Missense
Location:
Exon 10
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.1463C>G
p.(Ala488Gly) (Legacy AA No.469)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCA > GGA
Variant Effect:
Missense
Location:
Exon 10
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.1463C>T
p.(Ala488Val) (Legacy AA No.469)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCA > GTA
Variant Effect:
Missense
Location:
Exon 10
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.1464_1465insCCAGAC
p.(Ala488_Ser489insProAsp) (Legacy AA No.469)
Variant Type:
Insertion
Domain:
A2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 10
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 (Insertion | Inframe) of mutation at Exon 10

Individual Case Information : Show