Data Display Options:

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

  Search Results: 4 unique variants retrieved



  c.1015A>G
p.(Met339Val) (Legacy AA No.320)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
10
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1016T>C
p.(Met339Thr) (Legacy AA No.320)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1017G>A
p.(Met339Ile) (Legacy AA No.320)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 8
No of bases:
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.1017_1024del
p.(Met339Ilefs*18) (Legacy AA No.320)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 8
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 | Frameshift) of mutation at Exon 8

Individual Case Information : Show