Data Display Options:

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

  Search Results: 5 unique variants retrieved



  c.544G>T
p.(Asp182Tyr) (Legacy AA No.163)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > TAC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
9
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.545A>C
p.(Asp182Ala) (Legacy AA No.163)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > GCC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
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.545A>T
p.(Asp182Val) (Legacy AA No.163)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > GTC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
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.602-1G>C
(Legacy AA No.201)
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


 
(Legacy AA No.201)
Variant Type:
Deletion
Domain:
Sequence Context:
Variant Effect:
Large Deletion
Location:
Exon 5-12
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 | Large Deletion) of mutation at Exon 5-12

Individual Case Information : Show