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  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

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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

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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):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show