LOVD - Variant listings for SMAD6

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4 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
Ascending
- NC_000015.9:g.67033151T>C - - - - SMAD6_00001
- NM_005585.4:c.1451G>T - p.Cys484Phe - - SMAD6_00002
4 NM_005585.4:c.1244C>T - p.Pro415Leu - - SMAD6_00003
4 NM_005585.4:c.973G>A - p. Ala325Thr - - SMAD6_00004
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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. SMAD6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.