Variant #0000950151 (NC_000013.10:g.32972745_32972746insT, NM_000059.3:c.10095_10096insT (BRCA2))

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972745_32972746insT
DNA change (hg38) -
Published as BRCA2(NM_000059.3):c.10095_10096insT (p.(Ser3366*)), BRCA2(NM_000059.4):c.10095_10096insT (p.S3366*)
ISCN -
DB-ID BRCA2_007090 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00021 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA2 NM_000059.3 ?/. - c.10095_10096insT r.(?) p.(Ser3366Ter) -
N4BP2L1 NM_052818.2 ?/. - c.*4333_*4334insA r.(=) p.(=) -


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