Variant #0000007488 (NC_000002.12:g.214809500G>A, BARD1(NM_000465.3):c.70C>T)

Individual ID 00001073
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.214809500G>A
Reference -
DB-ID BARD1_000004 See all 11 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 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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RNA change     

Review status     
BARD1 NM_000465.3 ./- 1 c.70C>T p.(Pro24Ser) Not specified ATM r.(?) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001284 DNA CNV;SEQ-NG IACA - 27-dec-2019 Multigenetic panel ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, NF2, PALB2, PTEN, STK11, TP53 20 Silvina Sisterna-Hospital de Comunidad