Genomic variant #0000323349

Chromosome 13
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) -
Published as BRCA2(NM_000059.3):c.9976A>T (p.K3326*)
ISCN -
DB-ID BRCA2_000481 See all 78 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00646 View details
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     
BRCA2 NM_000059.3 -?/- - c.9976A>T r.(?) p.(Lys3326*) likely benign -
N4BP2L1 NM_052818.2 -?/- - c.*4453T>A r.(=) p.(=) likely benign -