Data Display Options:

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

  Search Results: 2 unique variants retrieved



  c.388G>C
p.(Gly130Arg) (Legacy AA No.111)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGA > CGA
Variant Effect:
Missense
Location:
Exon 3
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.388+4delA
(Legacy AA No.111)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 3
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 3

Individual Case Information : Show