Data Display Options:

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

  Search Results: 5 unique variants retrieved



  c.2101A>C
p.(Met701Leu) (Legacy AA No.682)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > CTG
Variant Effect:
Missense
Location:
Exon 13
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.2101A>G
p.(Met701Val) (Legacy AA No.682)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 13
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.2102_2106delTGGAA
p.(Met701Lysfs*26) (Legacy AA No.682)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 13
No of bases:
5
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 13

Individual Case Information : Show


  c.2102T>C
p.(Met701Thr) (Legacy AA No.682)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 13
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.2103G>A
p.(Met701Ile) (Legacy AA No.682)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 13
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