Genomic variant #0000054069

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) g.32398489A>T
Published as K3326X
ISCN -
DB-ID BRCA2_000481 See all 78 reported entries
Variant remarks -
Reference PubMed: Hadjisavvas 2003
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00646 View details
Owner Peter Devilee




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     
BRCA2 NM_000059.3 ?/. 27 c.9976A>T ? p.Lys3326* NA -