Variant #0000659594 (NC_000017.10:g.41272731_41279989dup, BRCA1(NM_007294.3):c.-232_80+3351{2))

Individual ID 00295767
Chromosome 17
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.41272731_41279989dup
DNA change (hg38) g.43120714_43127972dup
Published as -
ISCN -
DB-ID BRCA1_006090 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anikó Bozsik
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Anikó Bozsik
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 ?/. _1_2i c.-232_80+3351{2) r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296941 DNA MLPA;PCRlr;SEQ;SEQ-NG-I - - BRCA1, BRCA2 1 Anikó Bozsik