Variant #0000718462 (NC_000002.11:g.215674090T>G, BARD1(NM_000465.2):c.158+46A>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.215674090T>G
DNA change (hg38) -
Published as BARD1(NM_000465.4):c.158+46A>C
ISCN -
DB-ID ABCA12_000099
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) 0.73938 View details
Owner VKGL-NL_NKI
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_NKI
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BARD1 NM_000465.2 -/. - c.158+46A>C r.(=) p.(=)
ABCA12 NM_173076.2 -/. - c.*123268A>C r.(=) p.(=)