Explore this variation

Answer: 

This page offers a top panel of information specific to the variant. Graphical icons are presented that lead you to more specific variant data, also accessible from the links at the left. The links in the left hand menu have a corresponding icon. It's your choice how to navigate through the variation displays.

Top Panel

From the top of the view, the following information can be found:

  • Variant ID - The variant can be a SNP, insertion, deletion, structural variant, or a somatic mutation. An ID from dbSNP (rs...) is used preferentially to name the variation for short variants.
  • Alleles - The allele found on the forward strand of the reference assembly is shown first. Any alternate alleles are then displayed. For example, G/C indicates that the reference allele on the forward strand is G, and a C allele has also been detected at this position. Note: Ambiguity or IUPAC codes indicate the possible alleles. See the table at the bottom of this page.
  • Location - The location (chromosome, or scaffold, and basepair) of the variation is indicated, and a link is provided to the Region in Detail view. If more than one location is available, the variant maps to multiple locations.
  • Validation Status The status is imported from dbSNP See the NCBI validation status descriptions. More information can be found in the dbSNP handbook.
  • Synonyms - Other databases and projects cataloguing the same variation are listed. Any names of the variation within the alternate source are shown.
  • HGVS name - If nomenclature for this variant from HGVS is available, it will be shown here. A guide to HGVS symbols can be found at the HGVS website.

    Please see the variation documentation for more information such as source of variants, and consequence types (effect on genes and transcripts).

    IUPAC Ambiguity Codes