Genomic variant #0000455422

Individual ID 00219396
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) -
Published as 3326A>T
ISCN -
DB-ID BRCA2_000481 See all 81 reported entries
Variant remarks -
Reference PubMed: Hadjisavvas 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00646 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     
BRCA2 NM_000059.3 +/. 27 c.9976A>T r.(?) p.(Lys3326*) pathogenic -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220468 DNA SEQ - - BRCA2 1 Johan den Dunnen