View unique variants - The Globin Gene Server - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the EPAS1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the EPAS1 full legend here.

1 entry
entries per page

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID


6	NG_016000.1(EPAS1):c.574-5C>G	-	-	-	-	EPAS1_00001

Click here to save this list in a tab-delimited text file.

Legend: [ EPAS1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. EPAS1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

The Globin Gene Server

endothelial PAS domain protein 1 (EPAS1)