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LOVD - Variant listings for RPS10

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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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DB-ID Hide DB-ID column Descending
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Remarks Hide Remarks column Descending
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Molecula Mechanisms Hide Molecula Mechanisms column Descending
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02 c.3G>A - p.Met1Ile - RPS10_00001 - Missense mutation transition
03 c.260_261insC - p.Glu88GlyfsX10 - RPS10_00002 - Insertion slippage
04 c.337C>T
  (Reported 3 times)		 - p.Arg113X - RPS10_00003 - Nonsense mutation CpG
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Legend: [ RPS10 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. Frequency: Frequency of polymorphism. RPS10 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Remarks: Description of the variant Molecula Mechanisms: Molecular mechanisms

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