Data Display Options:

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

  Search Results: 4 unique variants retrieved



  c.6678delA
p.(Ala2227Leufs*16) (Legacy AA No.2208)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 24
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 24

Individual Case Information : Show


  c.6679G>C
p.(Ala2227Pro) (Legacy AA No.2208)
Variant Type:
Point
Domain:
C2
Sequence Context:
GCT > CCT
Variant Effect:
Missense
Location:
Exon 24
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.6679G>A
p.(Ala2227Thr) (Legacy AA No.2208)
Variant Type:
Point
Domain:
C2
Sequence Context:
GCT > ACT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.6680C>T
p.(Ala2227Val) (Legacy AA No.2208)
Variant Type:
Point
Domain:
C2
Sequence Context:
GCT > GTT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show