Variant #0000676489 (NC_000002.11:g.215674261C>A, BARD1(NM_000465.2):c.33G>T)

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.215674261C>A
DNA change (hg38) -
Published as BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H)
ISCN -
DB-ID ABCA12_000090 See all 4 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) 0.00159 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BARD1 NM_000465.2 -?/. - c.33G>T r.(?) p.(Gln11His)
ABCA12 NM_173076.2 -?/. - c.*123097G>T r.(=) p.(=)