Variant #0000841055 (NC_000002.11:g.( ?_215591897)_(215676132_?)del, NM_000465.2:c.-135_*{0} (BARD1))

Individual ID 00403808
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.( ?_215591897)_(215676132_?)del
DNA change (hg38) -
Published as whole gene deletion
ISCN -
DB-ID BARD1_000503
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Ana Osorio
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Ana Osorio
Date created 2022-02-23 10:59:32 +01:00 (CET)
Date last edited 2022-02-24 08:59:42 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BARD1 NM_000465.2 +/. _1_11_ c.-135_*{0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405045 DNA MLPA;SEQ-NG-I - - BARD1 1 Ana Osorio


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