LOVD - Variant listings for HBS1L

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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5 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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- 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
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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.