Data Display Options:
Search Results: 6 unique variants retrieved
c.601+5G>T
(Legacy AA No.182)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 4
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 (Point | Splice) of mutation at Intron 4
Individual Case Information : Show
c.601G>C
p.(Gly201Arg) (Legacy AA No.182)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGG > CGG
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.601G>A
p.(Gly201Arg) (Legacy AA No.182)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGG > AGG
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.602-13+c.602_615del
(Legacy AA No.182)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 4
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 | Splice) of mutation at Intron 4
Individual Case Information : Show
c.602-3C>G
(Legacy AA No.182)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 4
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 (Point | Splice) of mutation at Intron 4
Individual Case Information : Show
c.602G>A
p.(Gly201Glu) (Legacy AA No.182)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGG > GAG
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):