Genomic variant #0000054075

Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) g.32398489A>T
Published as 10204A/T (K3326X)
ISCN -
DB-ID BRCA2_000481 See all 78 reported entries
Variant remarks co-occurrence with deleterious variant; predicted neutral
Reference PubMed: Wu 2005
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 -