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LOVD - Variant listings for BCL11A

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9 entries
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Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
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_022893.3:c.386-12629G>A - - - - BCL11A_00007
- NM_022893.3:c.386-22075A>C - - - - BCL11A_00004
- NM_022893.3:c.386-24002G>T - - - - BCL11A_00002
- NM_022893.3:c.386-24278G>A - - - - BCL11A_00001
- NM_022893.3:c.386-24983T>C - - - - BCL11A_00005
- NM_022893.3:c.386-25379C>T - - - - BCL11A_00006
- NM_022893.3:c.386-17267T>C - - - - BCL11A_00009
- NM_022893.3:c.386-18893T>G - - - - BCL11A_00003
- NM_022893.3:c.386-22379G>A - - - - BCL11A_00008
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Legend: [ BCL11A 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. BCL11A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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