Variant #0000974947 (NC_000002.11:g.215674116C>A, NC_000002.11(NM_000465.2):c.158+20G>T (BARD1))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.215674116C>A
DNA change (hg38) -
Published as BARD1(NM_000465.2):c.158+20G>T (p.(=))
ISCN -
DB-ID ABCA12_000114
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:20:39 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BARD1 NM_000465.2 -?/. - c.158+20G>T r.(=) p.(=)
ABCA12 NM_173076.2 -?/. - c.*123242G>T r.(=) p.(=)


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