Genomic variant #0000455258

Individual ID 00219232
Chromosome 13
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) -
Published as 10204A>T
ISCN -
DB-ID BRCA2_000481 See all 78 reported entries
Variant remarks -
Reference PubMed: Jalkh 2012
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




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*) likely benign -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220304 DNA SEQ - - BRCA2 1 Johan den Dunnen