Variant #0000923601 (NC_000002.11:g.215674212G>T, NM_000465.2:c.82C>A (BARD1))

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.215674212G>T
DNA change (hg38) -
Published as BARD1(NM_000465.4):c.82C>A (p.P28T)
ISCN -
DB-ID ABCA12_000107 See all 2 reported entries
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2023-04-16 21:50:28 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BARD1 NM_000465.2 ?/. - c.82C>A r.(?) p.(Pro28Thr)
ABCA12 NM_173076.2 ?/. - c.*123146C>A r.(=) p.(=)


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