LOVD - Variant listings for STX11

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8 entries
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dbSNP ID Hide dbSNP ID column Descending

DNA change   Descending

Protein Hide Protein column Descending
rs34470310 chr6:144549483A>C p.L9R
rs1802414 chr6:144549548C>G p.E31Q
rs17073498 chr6:144549603A>G p.R49Q
rs1133248 chr6:144550068A>T p.L204H
rs45574234 chr6:144550256A>G p.V267M
rs9496891 chr6:144550286A>G p.T277A
rs34282765 chr6:144550296C>T p.C280Y
- c.802C>T p.Q268X
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Legend: [ STX11 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.
dbSNP ID: rs# DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level.