Variant #0000625569 (NC_000017.10:g.(41249307_41251791)_(41277500_?)del, BRCA1(NM_007294.3):c.-232_(547+1_548-1){0})

Individual ID 00270528
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(41249307_41251791)_(41277500_?)del
DNA change (hg38) -
Published as Del:1-8
ISCN -
DB-ID BRCA1_005868
Variant remarks -
Reference Journal: Gao 2020 as reported in: PubMed: Kwong 2015, Journal: Kwong 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1 families/patients
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Xianqi Gao
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/. _1_8i c.-232_(547+1_548-1){0} r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000271680 DNA ?;SEQ - - BRCA1 1 Xianqi Gao