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Variant #0000007531 (NC_000011.10:g.108267276T>C, ATM(NM_000051.3):c.2572T>C)
Individual ID
00001295
Chromosome
11
Allele
Unknown
Affects function (as reported)
Probably does not affect function
Affects function (by curator)
Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38)
g.108267276T>C
Reference
-
DB-ID
ATM_000019
See all 6 reported entries
dbSNP ID
-
Variant remarks
-
Average frequency (gnomAD v.2.1.1)
Retrieve
Owner
Silvina Sisterna-Hospital de Comunidad
Database submission
license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Created by
Instituto Nacional del Cancer
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Variant on transcripts
Error: Query (Logged)
/variants/0000007531 returned error in code block Genome_Variant::viewEntry().
Query : SELECT vot.*, t.geneid, t.id_ncbi, e.name AS effect, ds.name AS status FROM lovd_variants_on_transcripts AS vot INNER JOIN lovd_variants AS vog ON (vot.id = vog.id) LEFT OUTER JOIN lovd_variant_effect AS e ON (vot.effectid = e.id) LEFT OUTER JOIN lovd_data_status AS ds ON (vog.statusid = ds.id) LEFT OUTER JOIN lovd_transcripts AS t ON (t.id = vot.transcriptid) WHERE (vog.statusid >= 7) AND (vot.id LIKE ?) ORDER BY t.id_ncbi ASC
Error : Error in PDOStatement::execute() while executing prepared query: SQLSTATE[HY000]: General error: 1030 Got error 28 from storage engine
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Build 29
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