Variant #0000006297 (NC_000002.12:g.214767531C>T, BARD1(NM_000465.3):c.1519G>A)

Individual ID 00000941
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.214767531C>T
Reference -
DB-ID BARD1_000010 See all 8 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dolores Mansilla-Instituto Roffo
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

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Co_ocurrence     

RNA change     

Review status     
BARD1 NM_000465.3 -/-? 6 c.1519G>A p.(Val507Met) Hetero no r.(?) -



Screenings


AscendingScreening ID     

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Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001135 DNA SEQ-NG CEMIC - 21-mar-2019 Multigenetic panel ATM, BARD1, BRCA1, BRCA2, CHEK2, NBN, PALB2, PTEN, TP53 11 Dolores Mansilla-Instituto Roffo