Data Display Options:

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

  Search Results: 2 unique variants retrieved



  c.6165_6166dupGA
p.(Ile2056Argfs*40) (Legacy AA No.2037)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 20
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 20

Individual Case Information : Show


  c.6167T>A
p.(Ile2056Asn) (Legacy AA No.2037)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATT > AAT
Variant Effect:
Missense
Location:
Exon 20
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