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

About this overview [Show]

The variants below are all in the HBS1L 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 HBS1L full legend here.

12 entries
entries per page

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID


-	NM_006620.3:c.-162C>T	-	-	-	-	HBS1L_00001
-	NC_000006.11:g.135376209T>G	-	-	-	-	HBS1L_00002
-	NC_000006.11:g.135426573A>G	-	-	-	-	HBS1L_00004
-	NC_000006.11:g.135427144C>A	-	-	-	-	HBS1L_00003
-	NC_000006.11:g.135427159T>C	-	-	-	-	HBS1L_00005
-	NC_000006.11:g.135427817G>A	-	-	-	-	HBS1L_00006
-	NC_000006.11:g.135431640T>C	-	-	-	-	HBS1L_00007
-	NM_006620.3:c.130C>T	-	NP_006611.1:p.Arg44Trp	-	-	HBS1L_00008
-	NM_006620.3:c.163G>A	-	NP_006611.1:p.Glu55Lys	-	-	HBS1L_00009
-	NM_006620.3:c.194C>G	-	NP_006611.1:p.Ser65Cys	-	-	HBS1L_00010
-	NM_006620.3:c.2015C>A	-	NP_006611.1:p.Ser672Tyr	-	-	HBS1L_00012
-	NM_006620.3:c.39T>G	-	NP_006611.1:p.Asp13Glu	-	-	HBS1L_00011

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Legend: [ HBS1L 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
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. HBS1L DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

The Globin Gene Server

HBS1-like (HBS1L)