LOVD - Variant listings for ASS1

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4 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
- NM_000050.4:c.495+1473C>T - - - - ASS1_00001
- NM_000050.4:c.597+18A>G - - - - ASS1_00002
- NM_000050.4:c.838+2190A>G - - - - ASS1_00003
- NM_000050.4:c.839-88A>T - - - - ASS1_00004
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Legend: [ ASS1 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.
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. ASS1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.