Data Display Options:

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

  Search Results: 5 unique variants retrieved



  c.6319G>A
p.(Gly2107Ser) (Legacy AA No.2088)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  insAC in codon 2107
(Legacy AA No.2088)
Variant Type:
Insertion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 22

Individual Case Information : Show


  c.6320G>A
p.(Gly2107Asp) (Legacy AA No.2088)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 22
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


  c.6320_6322delGTG
p.(Gly2107del) (Legacy AA No.2088)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 22
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 22

Individual Case Information : Show


  c.6320G>T
p.(Gly2107Val) (Legacy AA No.2088)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 22
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