Variant #0000009642 (NC_000011.10:g.?, ATM(NM_000051.3):c.8988-3T>C)

Individual ID 00002413
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.?
Reference -
DB-ID ATM_000129 See all 8 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Erika Stegmayer-CIOC
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer




Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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RNA change     

Review status     
ATM NM_000051.3 ?/? ? c.8988-3T>C p.? Hetero no r.? -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002699 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Breast and Ovarian Cancer panel (28 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT1, SMARCA4, STK11, TP53, XRCC2. 16-11-21 Multigenetic panel - 2 Erika Stegmayer-CIOC