Data Display Options:
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
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
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):