Variant #0000363540 (NC_000017.10:g.(41226539_41228504)_(41277500_?)del, BRCA1(NM_007294.3):c.(?_-232)_(4484+1_4485-1)del)

Individual ID 00159616
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(41226539_41228504)_(41277500_?)del
DNA change (hg38) -
Published as c.-232-?_4484+?del
ISCN -
DB-ID BRCA1_004968 See all 3 reported entries
Variant remarks -
Reference Journal: Rebbeck 2018
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/. _1_14i c.(?_-232)_(4484+1_4485-1)del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000160481 DNA SEQ - - BRCA1 1 Johan den Dunnen