Variant #0000238642 (NC_000017.10:g.(41234593_41242960)_(41277500_?)dup, BRCA1(NM_007294.3):c.(?_-232)_ (4185+1_4186-1)dup)

Individual ID 00145547
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.(41234593_41242960)_(41277500_?)dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID BRCA1_004700
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 Hans Gille
Database submission license No license selected
Created by Merel Braspenning
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 ?/. _1_12i c.(?_-232)_ (4185+1_4186-1)dup r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000146404 DNA MLPA;SEQ - - BRCA1 1 Hans Gille