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LOVD - Variant listings for ERCC2

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6 entries
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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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Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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- NM_000400.3:c.1459C>G - - - - ERCC2_00003
- NM_000400.3:c.1780G>C - - - - ERCC2_00004
- NM_000400.3:c.1847G>C - - - - ERCC2_00005
- NM_000400.3:c.1972C>G - - - - ERCC2_00006
- NM_000400.3:c.2164C>T - - - - ERCC2_00007
- NM_000400.3:c.335G>A - - - - ERCC2_00002
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Legend: [ ERCC2 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. Genomic Reference Sequence.
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. ERCC2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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