LOVD - Variant listings for SMAD3

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2 entries
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Exon Hide Exon column Descending

DNA change   Descending

RNA change Hide RNA change column Descending

Protein Hide Protein column Descending

Re-site Hide Re-site column Descending

Frequency Hide Frequency column Descending

DB-ID Hide DB-ID column Descending
- NG_011990.1:c.206+47777G>A - - - - SMAD3_00002
- NG_011990.1:c.206+6924A>G - - - - SMAD3_00001
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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. SMAD3 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.