Data Display Options:

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

  Search Results: 2 unique variants retrieved



  c.1477A>G
p.(Asn493Asp) (Legacy AA No.474)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAC > GAC
Variant Effect:
Missense
Location:
Exon 10
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.1478delA
p.(Asn493Thrfs*22) (Legacy AA No.474)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 10
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 10

Individual Case Information : Show