Variant #0000003503 (NC_000002.12:g.214752539G>A, BARD1(NM_000465.3):c.1585C>T)

Individual ID 00000442
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.214752539G>A
Reference -
DB-ID BARD1_000007
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Cecilia Montes-IMGO
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     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
BARD1 NM_000465.3 ?/? 7 c.1585C>T p.(Arg529Trp) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000498 DNA SEQ-NG GENDA;COLOR Hereditary Cancer Risk Test (30 genes) 10-jul-2017 Multigenetic panel - 1 Cecilia Montes-IMGO