Data Display Options:

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

  Search Results: 1 unique variant retrieved.



  c.6982C>G
p.(His2328Asp) (Legacy AA No.2309)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 26
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 (Point | Missense ) of mutation at Exon 26

Individual Case Information : Show